# RGD-PIPELINE: ftp-file-extracts # MODULE: annotations-version-1.1.9 (Oct 10, 2019) # GENERATED-ON: 2025/02/01 # PURPOSE: annotations about active Human objects extracted from RGD database # ONTOLOGY: EFO: Experimental Factor Ontology # CONTACT: rgd.data@mcw.edu # FORMAT: tab delimited text # NOTES: multiple values in a single column are separated by '|' # #COLUMN INFORMATION: # #1 RGD_ID unique RGD_ID of the annotated object #2 OBJECT_SYMBOL official symbol of the annotated object #3 OBJECT_NAME official name of the annotated object #4 OBJECT_TYPE annotated object data type: one of ['gene','qtl','strain'] #5 TERM_ACC_ID ontology term accession id #6 TERM_NAME ontology term name #7 QUALIFIER optional qualifier #8 EVIDENCE evidence #9 WITH with info #10 ASPECT aspect #11 REFERENCES db references (Reference RGDID|PUBMED ID) #12 CREATED_DATE created date #13 ASSIGNED_BY assigned by #14 MESH_OMIM_ID MESH:xxx or OMIM:xxx id corresponding to RDO:xxx id found in TERM_ACC_ID column (RGD/CTD Disease Ontology annotations only) #15 CURATION_NOTES curation notes provided by RGD curators #16 ORIGINAL_REFERENCE original reference RGD_ID OBJECT_SYMBOL OBJECT_NAME OBJECT_TYPE TERM_ACC_ID TERM_NAME QUALIFIER EVIDENCE WITH ASPECT REFERENCES CREATED_DATE ASSIGNED_BY MESH_OMIM_ID CURATION_NOTES ORIGINAL_REFERENCE 10041259 CV185945 NM_004608.4(TBX6):c.-49+34G>T variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:27863252 10041259 CV185945 NM_004608.4(TBX6):c.-49+34G>T variant EFO:0004348 hematocrit IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 10041259 CV185945 NM_004608.4(TBX6):c.-49+34G>T variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 10041259 CV185945 NM_004608.4(TBX6):c.-49+34G>T variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 10041259 CV185945 NM_004608.4(TBX6):c.-49+34G>T variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 10041259 CV185945 NM_004608.4(TBX6):c.-49+34G>T variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 10041259 CV185945 NM_004608.4(TBX6):c.-49+34G>T variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 10041259 CV185945 NM_004608.4(TBX6):c.-49+34G>T variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 10041259 CV185945 NM_004608.4(TBX6):c.-49+34G>T variant EFO:0005035 hippocampal volume IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37337106 10041259 CV185945 NM_004608.4(TBX6):c.-49+34G>T variant EFO:0005047 obsolete_erythrocyte measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37596262 10041259 CV185945 NM_004608.4(TBX6):c.-49+34G>T variant EFO:0005090 basophil count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 10041259 CV185945 NM_004608.4(TBX6):c.-49+34G>T variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 10041259 CV185945 NM_004608.4(TBX6):c.-49+34G>T variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888494 10041259 CV185945 NM_004608.4(TBX6):c.-49+34G>T variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 10041259 CV185945 NM_004608.4(TBX6):c.-49+34G>T variant EFO:0010736 obsolete_cortical surface area measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34560273 10041657 CV186839 NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr) variant EFO:0800542 cerotoylcarnitine (C26) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 10041657 CV186839 NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr) variant EFO:0800543 ximenoylcarnitine (C26:1) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 10041794 CV186392 NM_000256.3(MYBPC3):c.1091-24C>T variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333282 10041831 CV186356 NM_000256.3(MYBPC3):c.3191-21A>G variant EFO:0004468 glucose measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10041831 CV186356 NM_000256.3(MYBPC3):c.3191-21A>G variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10041831 CV186356 NM_000256.3(MYBPC3):c.3191-21A>G variant EFO:0004627 IGF-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10042524 CV187129 NM_000250.1(MPO):c.2031-2A>C variant EFO:0005091 monocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 10042524 CV187129 NM_000250.1(MPO):c.2031-2A>C variant EFO:0005243 myeloperoxidase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 10042524 CV187129 NM_000250.1(MPO):c.2031-2A>C variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30111768 10042524 CV187129 NM_000250.1(MPO):c.2031-2A>C variant EFO:0007989 monocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 10042524 CV187129 NM_000250.1(MPO):c.2031-2A>C variant EFO:0801989 ras-related protein Rab-26 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 10045312 CV189115 NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 10045312 CV189115 NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 10045348 CV189154 NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly) variant EFO:0004314 forced expiratory volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30175238 10047572 CV190537 NM_178138.6(LHX3):c.79+2007T>C variant EFO:0000275 atrial fibrillation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36653681 10047660 CV190829 NM_004183.4(BEST1):c.1410G>A (p.Thr470=) variant EFO:0010224 lysophosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 10047660 CV190829 NM_004183.4(BEST1):c.1410G>A (p.Thr470=) variant EFO:0010225 lysophosphatidylethanolamine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 10047830 CV191377 NM_003742.4(ABCB11):c.1331T>C (p.Val444Ala) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333282 10047830 CV191377 NM_003742.4(ABCB11):c.1331T>C (p.Val444Ala) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333282 10047917 CV191634 NM_000392.5(ABCC2):c.1967+1G>A variant EFO:0020007 X-21467 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 10047917 CV191634 NM_000392.5(ABCC2):c.1967+1G>A variant EFO:0800276 glycocholenate sulfate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 10047917 CV191634 NM_000392.5(ABCC2):c.1967+1G>A variant EFO:0800474 glycochenodeoxycholate glucuronide (1) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 10047917 CV191634 NM_000392.5(ABCC2):c.1967+1G>A variant EFO:0800814 X-21441 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 10047917 CV191634 NM_000392.5(ABCC2):c.1967+1G>A variant EFO:0800818 X-21471 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 10048099 CV192211 NM_000235.4(LIPA):c.46A>C (p.Thr16Pro) variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30388399 10048099 CV192211 NM_000235.4(LIPA):c.46A>C (p.Thr16Pro) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 10048187 CV192511 NM_018965.4(TREM2):c.140G>A (p.Arg47His) variant EFO:0010151 soluble triggering receptor expressed on myeloid cells 2 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38172904 10048187 CV192511 NM_018965.4(TREM2):c.140G>A (p.Arg47His) variant EFO:1001870 late-onset Alzheimers disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28714976 10048187 CV192511 NM_018965.4(TREM2):c.140G>A (p.Arg47His) variant EFO:MONDO:0004975 Alzheimer disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23150908 10048187 CV192511 NM_018965.4(TREM2):c.140G>A (p.Arg47His) variant EFO:OBA:2001000 age of onset of Alzheimer disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36738287 10048203 CV192548 NM_031471.6(FERMT3):c.159C>G (p.Ile53Met) variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 10048203 CV192548 NM_031471.6(FERMT3):c.159C>G (p.Ile53Met) variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 10048204 CV192549 NM_031471.6(FERMT3):c.130G>A (p.Gly44Arg) variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 10048204 CV192549 NM_031471.6(FERMT3):c.130G>A (p.Gly44Arg) variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 10048257 CV192704 NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10048462 CV193423 NM_000388.4(CASR):c.748G>A (p.Glu250Lys) variant EFO:0004838 calcium measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10048478 CV193466 NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp) variant EFO:0009658 adverse effect IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30420678 10048478 CV193466 NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp) variant EFO:GO:0009410 response to xenobiotic stimulus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30420678 10048654 CV194182 NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) variant EFO:0004312 vital capacity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36914875 10048654 CV194182 NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 10048654 CV194182 NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28452372 10048654 CV194182 NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 10048654 CV194182 NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33097823 10048654 CV194182 NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) variant EFO:0004995 lean body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 10048654 CV194182 NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28452372 10048654 CV194182 NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) variant EFO:0007778 urinary albumin to creatinine ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31511532 10048654 CV194182 NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) variant EFO:0020107 thigh muscle volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36402844 10048691 CV194312 NM_000515.5(GH1):c.406G>A (p.Val136Ile) variant EFO:0004627 IGF-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10048691 CV194312 NM_000515.5(GH1):c.406G>A (p.Val136Ile) variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35999217 10048707 CV194351 NM_001202.6(BMP4):c.455T>C (p.Val152Ala) variant EFO:0004741 blood urea nitrogen measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34272381 10048707 CV194351 NM_001202.6(BMP4):c.455T>C (p.Val152Ala) variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35710981 10048707 CV194351 NM_001202.6(BMP4):c.455T>C (p.Val152Ala) variant EFO:GO:0044691 tooth eruption IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23704328 10048804 CV194708 NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) variant EFO:0803197 tubulointerstitial nephritis antigen-like measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 10048844 CV194829 NM_000433.4(NCF2):c.606G>A (p.Ala202=) variant EFO:MONDO:0007915 systemic lupus erythematosus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26502338 10048849 CV194840 NM_000478.6(ALPL):c.455G>A (p.Arg152His) variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31666285 10048849 CV194840 NM_000478.6(ALPL):c.455G>A (p.Arg152His) variant EFO:0010972 blood phosphate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10048889 CV194990 NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) variant EFO:0000389 cutaneous melanoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32341527 10048889 CV194990 NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) variant EFO:0003784 obsolete_skin pigmentation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28300201 10048889 CV194990 NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) variant EFO:0003949 eye color IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33692100 10048889 CV194990 NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) variant EFO:0004193 basal cell carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31174203 10048889 CV194990 NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) variant EFO:0004198 skin neoplasm IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 10048889 CV194990 NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) variant EFO:0007009 obsolete_skin pigmentation measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33600456 10048889 CV194990 NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) variant EFO:0009180 rosacea severity measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29771307 10048889 CV194990 NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) variant EFO:0010554 retinal vasculature measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34743558 10048889 CV194990 NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) variant EFO:1001927 cutaneous squamous cell carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38182794 10048889 CV194990 NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) variant EFO:MONDO:0004992 cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33893285 10048958 CV195232 NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) variant EFO:0004838 calcium measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 10048962 CV195243 NM_000443.4(ABCB4):c.504C>T (p.Asn168=) variant EFO:0004735 serum alanine aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10048962 CV195243 NM_000443.4(ABCB4):c.504C>T (p.Asn168=) variant EFO:0010934 aspartate aminotransferase to alanine aminotransferase ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10049002 CV195377 NM_015294.6(TRIM37):c.398C>T (p.Ala133Val) variant EFO:0003761 obsolete_unipolar depression IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34782712 10049002 CV195377 NM_015294.6(TRIM37):c.398C>T (p.Ala133Val) variant EFO:0004363 information processing speed IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34782712 10049002 CV195377 NM_015294.6(TRIM37):c.398C>T (p.Ala133Val) variant EFO:0008354 cognitive function measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34782712 10049002 CV195377 NM_015294.6(TRIM37):c.398C>T (p.Ala133Val) variant EFO:MONDO:0002009 major depressive disorder IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34782712 10049060 CV195584 NM_000478.6(ALPL):c.787T>C (p.Tyr263His) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 10049060 CV195584 NM_000478.6(ALPL):c.787T>C (p.Tyr263His) variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10049060 CV195584 NM_000478.6(ALPL):c.787T>C (p.Tyr263His) variant EFO:0010972 blood phosphate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10049078 CV195631 NM_001814.6(CTSC):c.1357A>G (p.Ile453Val) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 10049104 CV195743 NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) variant EFO:0000537 hypertension IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 10049104 CV195743 NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 10049106 CV195748 NM_022350.5(ERAP2):c.1232T>G (p.Leu411Arg) variant EFO:0801566 endoplasmic reticulum aminopeptidase 2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 10049235 CV38432 NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 10049235 CV38432 NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) variant EFO:0006792 Lewy body dementia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33589841 10049235 CV38432 NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) variant EFO:MONDO:0005180 Parkinson disease IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39080267 10050091 CV191404 NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 10050462 CV191958 NM_033100.4(CDHR1):c.*4A>G variant EFO:MONDO:0004892 refractive error IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32352494 10050674 CV192287 NM_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32778093 10051907 CV194059 NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile) variant EFO:1001507 asparaginase-induced acute pancreatitis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27114598 10052040 CV194241 NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10052121 CV194358 NM_001558.4(IL10RA):c.475A>G (p.Ser159Gly) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 10052128 CV194369 NM_002768.5(CHMP1A):c.198G>A (p.Ala66=) variant EFO:0003924 hair color IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30531825 10052448 CV194838 NM_000478.6(ALPL):c.436G>A (p.Glu146Lys) variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31666285 10053092 CV195771 NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10053092 CV195771 NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) variant EFO:0004617 cystatin C measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10053092 CV195771 NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10053092 CV195771 NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) variant EFO:0009795 obsolete_serum urea measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10053092 CV195771 NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) variant EFO:0010972 blood phosphate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10053106 CV195791 NM_178170.3(NEK8):c.1055G>T (p.Arg352Leu) variant EFO:HP:0002619 Varicose veins IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 10055018 CV197717 NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32499652 10055554 CV198016 NM_000527.5(LDLR):c.1773C>T (p.Asn591=) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30926973 10056092 CV199803 NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) variant EFO:0004713 FEV/FVC ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36914875 10056373 CV200569 NM_000030.3(AGXT):c.846+52G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 10056573 CV200665 NM_138413.4(HOGA1):c.469-25C>T variant EFO:0009765 alanine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10056573 CV200665 NM_138413.4(HOGA1):c.469-25C>T variant EFO:0009768 glutamine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10056573 CV200665 NM_138413.4(HOGA1):c.469-25C>T variant EFO:0800052 4-hydroxyglutamate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 10395497 CV171859 NM_004771.4(MMP20):c.954-4768T>C variant EFO:0000621 neuroblastoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28924153 10395498 CV171875 NR_038264.1(ADAMTS9-AS2):n.469+34351C>T variant EFO:0001365 age-related macular degeneration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23455636 10395498 CV171875 NR_038264.1(ADAMTS9-AS2):n.469+34351C>T variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 10395498 CV171875 NR_038264.1(ADAMTS9-AS2):n.469+34351C>T variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30054458 10395499 CV171876 NM_020351.4(COL8A1):c.-4+17674G>T variant EFO:0001365 age-related macular degeneration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23455636 10395502 CV171879 NC_000006.12:g.30806580G>A variant EFO:0001365 age-related macular degeneration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23455636 10395503 CV171880 NM_006929.5(SKIC2):c.1212-29G>A variant EFO:0005409 obsolete_fat body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 10395504 CV171881 NC_000006.12:g.43858890C>T variant EFO:0001365 age-related macular degeneration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23455636 10395504 CV171881 NC_000006.12:g.43858890C>T variant EFO:0004464 obsolete_brain measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34910505 10395504 CV171881 NC_000006.12:g.43858890C>T variant EFO:0010736 obsolete_cortical surface area measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34910505 10395507 CV171884 NM_001099667.3(ARMS2):c.297+881C>T variant EFO:0001365 age-related macular degeneration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33893285 10395508 CV171885 NM_002775.5(HTRA1):c.472+4990G>T variant EFO:0000712 stroke IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39537608 10395508 CV171885 NM_002775.5(HTRA1):c.472+4990G>T variant EFO:0001365 age-related macular degeneration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29346644 10395508 CV171885 NM_002775.5(HTRA1):c.472+4990G>T variant EFO:0008336 disease progression measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29346644 10395508 CV171885 NM_002775.5(HTRA1):c.472+4990G>T variant EFO:0008372 laterality measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28775256 10395509 CV171886 NM_194318.4(B3GLCT):c.271-1835T>C variant EFO:0001365 age-related macular degeneration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23455636 10395510 CV171887 NM_133510.4(RAD51B):c.853+26380G>A variant EFO:0001365 age-related macular degeneration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23455636 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0000195 metabolic syndrome IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:20694148 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0001365 age-related macular degeneration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:21665990 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:20686565 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:20686565 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30926973 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:19060910 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0004732 lipoprotein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0005680 omega-6 polyunsaturated fatty acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0005689 non-high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0006807 linoleic acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0007761 docosahexaenoic acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0007805 HDL cholesterol change measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26690388 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0008317 obsolete_vldl cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0008589 esterified cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0008595 intermediate density lipoprotein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0009932 HMG CoA reductase inhibitor use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31015401 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0010116 choline measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0010118 sphingomyelin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0010224 lysophosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0010225 lysophosphatidylethanolamine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0010226 phosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0010733 polyunsaturated fatty acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0010815 remnant cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0020943 cholesterol:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0020944 cholesteryl esters:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0020945 free cholesterol:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0020946 phospholipids:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0020947 triglycerides:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0022144 triglycerides in very small VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0022156 total lipids in very small VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0022171 total cholesterol in small VLDL IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0022231 cholesterol in very small VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0022235 cholesterol to total lipids in large LDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0022243 cholesterol to total lipids in very large HDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0022244 cholesterol to total lipids in very large VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0022249 cholesteryl esters to total lipids in large LDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0022258 cholesteryl esters to total lipids in very large VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0022272 free cholesterol in small VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0022275 free cholesterol in very small VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0022277 free cholesterol to total lipids in chylomicrons and extremely large VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0022291 phosphoglycerides measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0022315 total phospholipids in lipoprotein particles measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0022321 triglycerides in medium HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0022324 triglycerides in very large HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0800466 1-(1-enyl-palmitoyl)-2-palmitoyl-GPC (P-16:0/16:0) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 10395512 CV171889 NC_000016.10:g.56959412C>A variant EFO:0800515 1-palmityl-2-palmitoyl-GPC (O-16:0/16:0) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0001645 coronary artery disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26343387 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0004335 short-term memory IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35974141 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:19567438 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0004529 lipid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:19197348 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0004570 bilirubin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:19197348 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:17463246 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:20686565 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0004617 cystatin C measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0004735 serum alanine aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0004746 lipoprotein-associated phospholipase A(2) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:20442857 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0004874 memory performance IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25648963 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0005039 hippocampal atrophy IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31760383 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28957414 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0006805 word list delayed recall measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25648963 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0006806 paragraph delayed recall measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25648963 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0007707 cerebral amyloid deposition measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30361487 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0007796 parental longevity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31484785 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0007985 platelet crit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0008288 obsolete_small nuclear ribonucleoprotein f measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28240269 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0008589 esterified cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28957414 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0009795 obsolete_serum urea measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0010155 taste liking measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35585065 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0010228 phosphatidylethanolamine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0010934 aspartate aminotransferase to alanine aminotransferase ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:0020157 apolipoprotein E (isoform E3) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28240269 10395513 CV171890 NM_001645.3(APOC1):c.*459A>G variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28869590 10395515 CV171892 NM_013356.3(SLC16A8):c.1198+571G>A variant EFO:0001365 age-related macular degeneration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23455636 10401344 CV205029 NM_000159.4(GCDH):c.*165A>G variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 10401344 CV205029 NM_000159.4(GCDH):c.*165A>G variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 10401344 CV205029 NM_000159.4(GCDH):c.*165A>G variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 10401344 CV205029 NM_000159.4(GCDH):c.*165A>G variant EFO:0800030 glutarylcarnitine (C5-DC) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 10401345 CV205030 NM_000159.4(GCDH):c.*288G>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 10401382 CV205053 NM_001013627.3(NHSL2):c.586G>A (p.Glu196Lys) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39048560 10401382 CV205053 NM_001013627.3(NHSL2):c.586G>A (p.Glu196Lys) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39048560 10401382 CV205053 NM_001013627.3(NHSL2):c.586G>A (p.Glu196Lys) variant EFO:0006340 mean arterial pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39048560 10403582 CV208644 NM_018993.4(RIN2):c.84C>T (p.Ile28=) variant EFO:0007984 platelet component distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 10403784 CV207039 NM_144639.3(UROC1):c.40C>T (p.Arg14Trp) variant EFO:MONDO:0019938 anorectal malformation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31136621 10404516 CV208320 NM_000135.4(FANCA):c.1826+12C>T variant EFO:0007822 obsolete_hair colour measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34737426 10404799 CV206254 NM_007294.4(BRCA1):c.5194-1244T>G variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33547301 10404826 CV206282 NM_007294.4(BRCA1):c.5075-373C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 10405056 CV206526 NM_007294.4(BRCA1):c.80+1128C>T variant EFO:0004704 age at menopause IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34349265 10405084 CV205814 NM_000059.4(BRCA2):c.-39-332G>T variant EFO:0011015 educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35361970 10405187 CV205936 NM_000059.4(BRCA2):c.6938-346G>A variant EFO:0022322 triglycerides in medium LDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10405196 CV205946 NM_000059.4(BRCA2):c.7007+911A>G variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10405208 CV205959 NM_000059.4(BRCA2):c.7007+3159A>G variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10405208 CV205959 NM_000059.4(BRCA2):c.7007+3159A>G variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10405208 CV205959 NM_000059.4(BRCA2):c.7007+3159A>G variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10405241 CV205996 NM_000059.4(BRCA2):c.7806-1749G>A variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10405241 CV205996 NM_000059.4(BRCA2):c.7806-1749G>A variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10405241 CV205996 NM_000059.4(BRCA2):c.7806-1749G>A variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10405241 CV205996 NM_000059.4(BRCA2):c.7806-1749G>A variant EFO:0020946 phospholipids:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10405241 CV205996 NM_000059.4(BRCA2):c.7806-1749G>A variant EFO:0022161 total lipids in IDL IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10405241 CV205996 NM_000059.4(BRCA2):c.7806-1749G>A variant EFO:0022176 free cholesterol in large LDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10405241 CV205996 NM_000059.4(BRCA2):c.7806-1749G>A variant EFO:0022181 free cholesterol in IDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10405241 CV205996 NM_000059.4(BRCA2):c.7806-1749G>A variant EFO:0022275 free cholesterol in very small VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10405241 CV205996 NM_000059.4(BRCA2):c.7806-1749G>A variant EFO:0022301 phospholipids in VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10405342 CV206108 NM_000059.4(BRCA2):c.9256+5507T>C variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10405375 CV206152 NM_000059.4(BRCA2):c.9257-276G>A variant EFO:0004284 upper aerodigestive tract neoplasm IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33667223 10405375 CV206152 NM_000059.4(BRCA2):c.9257-276G>A variant EFO:MONDO:0008903 lung cancer IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39366959 10405405 CV205979 NM_000059.4(BRCA2):c.7008-590G>A variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10405405 CV205979 NM_000059.4(BRCA2):c.7008-590G>A variant EFO:0020946 phospholipids:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10405420 CV206119 NM_000059.4(BRCA2):c.9257-6738C>T variant EFO:0009932 HMG CoA reductase inhibitor use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 10405425 CV206153 NM_000059.4(BRCA2):c.9257-235G>A variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10405425 CV206153 NM_000059.4(BRCA2):c.9257-235G>A variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10405427 CV206165 NM_000059.4(BRCA2):c.9502-299G>C variant EFO:0004529 lipid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10405427 CV206165 NM_000059.4(BRCA2):c.9502-299G>C variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10405427 CV206165 NM_000059.4(BRCA2):c.9502-299G>C variant EFO:0008589 esterified cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10405427 CV206165 NM_000059.4(BRCA2):c.9502-299G>C variant EFO:0010118 sphingomyelin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10405427 CV206165 NM_000059.4(BRCA2):c.9502-299G>C variant EFO:0022168 total lipids in small LDL IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10405427 CV206165 NM_000059.4(BRCA2):c.9502-299G>C variant EFO:0022179 total cholesterol in small LDL IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10405427 CV206165 NM_000059.4(BRCA2):c.9502-299G>C variant EFO:0022185 total cholesterol in medium LDL IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10405427 CV206165 NM_000059.4(BRCA2):c.9502-299G>C variant EFO:0022268 free cholesterol in medium LDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10405427 CV206165 NM_000059.4(BRCA2):c.9502-299G>C variant EFO:0022271 free cholesterol in small LDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 10406137 CV213624 NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33067605 10406137 CV213624 NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) variant EFO:MONDO:0005301 multiple sclerosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:19525953 10407570 CV212174 NM_002354.3(EPCAM):c.859-3C>G variant EFO:0010574 epithelial cell adhesion molecule measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25147954 10409011 CV207853 NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30297969 10409083 CV207161 NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 10409693 CV210400 NM_000071.2(CBS):c.1359-30C>T variant EFO:0007787 plasma betaine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 10410273 CV210948 NM_020191.4(MRPS22):c.938C>T (p.Ser313Leu) variant EFO:0022117 Sphingomyelin (d18:2/24:1, d18:1/24:2) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 10410385 CV210214 NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 10410385 CV210214 NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 10410818 CV210422 NM_000071.2(CBS):c.954+127G>A variant EFO:0006331 selenium measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25343990 10411262 CV210401 NM_000071.2(CBS):c.1359-134G>A variant EFO:0006331 selenium measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25343990 10411446 CV209629 NM_003242.6(TGFBR2):c.1525-91C>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 10411754 CV188095 NM_002658.6(PLAU):c.172G>A (p.Gly58Arg) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 10411754 CV188095 NM_002658.6(PLAU):c.172G>A (p.Gly58Arg) variant EFO:0010803 urokinase-type plasminogen activator measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 10448540 CV214481 NM_001080432.3(FTO):c.46-43098T>C variant EFO:0000668 preeclampsia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33239696 10448540 CV214481 NM_001080432.3(FTO):c.46-43098T>C variant EFO:0001073 obesity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23563607 10448540 CV214481 NM_001080432.3(FTO):c.46-43098T>C variant EFO:0003939 energy intake IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29988085 10448540 CV214481 NM_001080432.3(FTO):c.46-43098T>C variant EFO:0004338 body weight IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 10448540 CV214481 NM_001080432.3(FTO):c.46-43098T>C variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26604143 10448540 CV214481 NM_001080432.3(FTO):c.46-43098T>C variant EFO:0004342 obsolete_waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35051171 10448540 CV214481 NM_001080432.3(FTO):c.46-43098T>C variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 10448540 CV214481 NM_001080432.3(FTO):c.46-43098T>C variant EFO:0004766 obsolete_subcutaneous adipose tissue quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36402844 10448540 CV214481 NM_001080432.3(FTO):c.46-43098T>C variant EFO:0004995 lean body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 10448540 CV214481 NM_001080432.3(FTO):c.46-43098T>C variant EFO:0005937 longitudinal BMI measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31840077 10448540 CV214481 NM_001080432.3(FTO):c.46-43098T>C variant EFO:0005939 parental genotype effect measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33239696 10448540 CV214481 NM_001080432.3(FTO):c.46-43098T>C variant EFO:0006941 grip strength measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29691431 10448540 CV214481 NM_001080432.3(FTO):c.46-43098T>C variant EFO:0007800 body fat percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35051171 10448540 CV214481 NM_001080432.3(FTO):c.46-43098T>C variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32451486 10448540 CV214481 NM_001080432.3(FTO):c.46-43098T>C variant EFO:0008007 age at assessment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31840077 10448540 CV214481 NM_001080432.3(FTO):c.46-43098T>C variant EFO:0008328 chronotype measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30696823 10448540 CV214481 NM_001080432.3(FTO):c.46-43098T>C variant EFO:0009458 alcohol use disorder measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32451486 10448540 CV214481 NM_001080432.3(FTO):c.46-43098T>C variant EFO:0009932 HMG CoA reductase inhibitor use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31015401 10448540 CV214481 NM_001080432.3(FTO):c.46-43098T>C variant EFO:0020098 abdominal fat ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36402844 10448540 CV214481 NM_001080432.3(FTO):c.46-43098T>C variant EFO:0020099 weight-to-muscle ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36402844 10448540 CV214481 NM_001080432.3(FTO):c.46-43098T>C variant EFO:1000786 osteoarthritis, hip IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376028 10448540 CV214481 NM_001080432.3(FTO):c.46-43098T>C variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26818947 10449746 CV215183 NM_016361.5(ACP6):c.652C>T (p.Arg218Trp) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 10449746 CV215183 NM_016361.5(ACP6):c.652C>T (p.Arg218Trp) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 10449750 CV215243 NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10449750 CV215243 NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser) variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10449750 CV215243 NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser) variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 10449801 CV215288 NM_006030.4(CACNA2D2):c.224G>A (p.Arg75Gln) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39280063 10450069 CV215037 NM_005912.3(MC4R):c.307G>A (p.Val103Ile) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 10450069 CV215037 NM_005912.3(MC4R):c.307G>A (p.Val103Ile) variant EFO:0004343 waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30239722 10450069 CV215037 NM_005912.3(MC4R):c.307G>A (p.Val103Ile) variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 10450069 CV215037 NM_005912.3(MC4R):c.307G>A (p.Val103Ile) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 10450069 CV215037 NM_005912.3(MC4R):c.307G>A (p.Val103Ile) variant EFO:0004765 obsolete_visceral adipose tissue measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31501611 10450069 CV215037 NM_005912.3(MC4R):c.307G>A (p.Val103Ile) variant EFO:0005093 obsolete_hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25673412 10766631 CV215772 NM_181458.4(PAX3):c.944C>A (p.Thr315Lys) variant EFO:0006930 obsolete_brain volume measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33875891 10767820 CV222387 NM_001040108.2(MLH3):c.2896T>C (p.Ser966Pro) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 10768304 CV221333 NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32929287 10768516 CV221642 NM_003227.4(TFR2):c.2255G>A (p.Arg752His) variant EFO:0003948 gastroesophageal reflux disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35851147 10768516 CV221642 NM_003227.4(TFR2):c.2255G>A (p.Arg752His) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 10768516 CV221642 NM_003227.4(TFR2):c.2255G>A (p.Arg752His) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 10768516 CV221642 NM_003227.4(TFR2):c.2255G>A (p.Arg752His) variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 10768516 CV221642 NM_003227.4(TFR2):c.2255G>A (p.Arg752His) variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 10768516 CV221642 NM_003227.4(TFR2):c.2255G>A (p.Arg752His) variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 10768516 CV221642 NM_003227.4(TFR2):c.2255G>A (p.Arg752His) variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 10768516 CV221642 NM_003227.4(TFR2):c.2255G>A (p.Arg752His) variant EFO:MONDO:0004975 Alzheimer disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35851147 11039566 CV223283 NM_002315.3(LMO1):c.26-3357G>T variant EFO:0004468 glucose measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37679419 11039566 CV223283 NM_002315.3(LMO1):c.26-3357G>T variant EFO:0004535 obsolete_serum albumin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11039566 CV223283 NM_002315.3(LMO1):c.26-3357G>T variant EFO:0007629 hemoglobin A1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11039566 CV223283 NM_002315.3(LMO1):c.26-3357G>T variant EFO:0009765 alanine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11039566 CV223283 NM_002315.3(LMO1):c.26-3357G>T variant EFO:0009768 glutamine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11039566 CV223283 NM_002315.3(LMO1):c.26-3357G>T variant EFO:0020017 2-aminobutyrate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 11049872 CV225590 NM_000251.3(MSH2):c.1277-2433T>A variant EFO:0004847 age at onset IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26830138 11049872 CV225590 NM_000251.3(MSH2):c.1277-2433T>A variant EFO:MONDO:0004975 Alzheimer disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26830138 11050086 CV225668 NM_002769.5(PRSS1):c.41-215G>A variant EFO:MONDO:0019338 sarcoidosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:22952805 11075138 CV227129 NM_018283.4(NUDT15):c.415C>T (p.Arg139Cys) variant EFO:0004233 leukopenia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25108385 11075138 CV227129 NM_018283.4(NUDT15):c.415C>T (p.Arg139Cys) variant EFO:OBA:2040051 trait in response to thiopurine IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25108385 11087590 CV227694 NM_002108.3(HAL):c.964C>T variant EFO:0009769 histidine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35995766 11087621 CV228099 NM_005693.4(NR1H3):c.1244G>A (p.Arg415Gln) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11087685 CV227800 NM_001082.5(CYP4F2):c.1297G>A (p.Val433Met) variant EFO:0004618 vitamin K measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25411281 11087685 CV227800 NM_001082.5(CYP4F2):c.1297G>A (p.Val433Met) variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11087685 CV227800 NM_001082.5(CYP4F2):c.1297G>A (p.Val433Met) variant EFO:0004867 vitamin E measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:21729881 11087685 CV227800 NM_001082.5(CYP4F2):c.1297G>A (p.Val433Met) variant EFO:0010228 phosphatidylethanolamine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 11087685 CV227800 NM_001082.5(CYP4F2):c.1297G>A (p.Val433Met) variant EFO:0021055 hexadecanedioate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 11087685 CV227800 NM_001082.5(CYP4F2):c.1297G>A (p.Val433Met) variant EFO:0021057 tetradecanedioate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 11087685 CV227800 NM_001082.5(CYP4F2):c.1297G>A (p.Val433Met) variant EFO:0021251 X-11538 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 11087685 CV227800 NM_001082.5(CYP4F2):c.1297G>A (p.Val433Met) variant EFO:0022126 X-23756 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 11087685 CV227800 NM_001082.5(CYP4F2):c.1297G>A (p.Val433Met) variant EFO:0800160 gamma-CEHC measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 11087685 CV227800 NM_001082.5(CYP4F2):c.1297G>A (p.Val433Met) variant EFO:0800163 alpha-CEHC glucuronide measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 11087685 CV227800 NM_001082.5(CYP4F2):c.1297G>A (p.Val433Met) variant EFO:0800165 gamma-CEHC glucuronide measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11087685 CV227800 NM_001082.5(CYP4F2):c.1297G>A (p.Val433Met) variant EFO:0800371 octadecanedioylcarnitine (C18-DC) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11087685 CV227800 NM_001082.5(CYP4F2):c.1297G>A (p.Val433Met) variant EFO:0800565 octadecadienedioate (C18:2-DC) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11087685 CV227800 NM_001082.5(CYP4F2):c.1297G>A (p.Val433Met) variant EFO:GO:0033273 response to vitamin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:22437554 11087685 CV227800 NM_001082.5(CYP4F2):c.1297G>A (p.Val433Met) variant EFO:GO:0061476 response to anticoagulant IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:20833655 11087686 CV37785 NM_000852.4(GSTP1):c.313A>G (p.Ile105Val) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11087686 CV37785 NM_000852.4(GSTP1):c.313A>G (p.Ile105Val) variant EFO:0020410 glutathione s-transferase p measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11087686 CV37785 NM_000852.4(GSTP1):c.313A>G (p.Ile105Val) variant EFO:0800019 N-acetylphenylalanine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 11087688 CV227742 NM_000569.8(FCGR3A):c.526T>G (p.Phe176Val) variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32929287 11087688 CV227742 NM_000569.8(FCGR3A):c.526T>G (p.Phe176Val) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11087688 CV227742 NM_000569.8(FCGR3A):c.526T>G (p.Phe176Val) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32929287 11087688 CV227742 NM_000569.8(FCGR3A):c.526T>G (p.Phe176Val) variant EFO:OBA:2040305 level of low affinity immunoglobulin gamma Fc region receptor III-A in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 11087690 CV227779 NC_000015.9:g.45620985C>T variant EFO:0005421 obsolete_serum homoarginine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 11087693 CV227766 NM_152888.3(COL22A1):c.658+5484G>A variant EFO:GO:0097366 response to bronchodilator IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23508266 11087703 CV227802 NC_000019.10:g.39252525T>G variant EFO:0004220 chronic hepatitis C virus infection IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:19749758 11087714 CV227797 NC_000018.9:g.57882787C>A variant EFO:0007660 neuroticism measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29942085 11087719 CV227757 NC_000006.12:g.31575254G>A variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30578418 11087719 CV227757 NC_000006.12:g.31575254G>A variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11087719 CV227757 NC_000006.12:g.31575254G>A variant EFO:0008234 MHC class I polypeptide-related sequence B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0000266 aortic stenosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32141789 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0000612 myocardial infarction IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26343387 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0001645 coronary artery disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28714975 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0003144 heart failure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36777996 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0003913 angina pectoris IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0004214 Abdominal Aortic Aneurysm IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36777996 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0004265 peripheral arterial disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25350695 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0004746 lipoprotein-associated phospholipase A(2) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23118302 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0005110 fatty acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0005239 aortic valve calcification IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32141789 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0005680 omega-6 polyunsaturated fatty acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0005689 non-high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0006925 lipoprotein A measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33115273 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0007804 LDL cholesterol change measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31969989 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0008317 obsolete_vldl cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0008594 obsolete_vldl particle size measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0010118 sphingomyelin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33414548 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0010351 cholesteryl ester measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0020946 phospholipids:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0021898 cholesterol in chylomicrons and extremely large VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022145 triglycerides in small VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022155 triglycerides in medium VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022158 triglycerides in small HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022169 phospholipids in large VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022175 total lipids in large VLDL IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022178 triglycerides in large VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022187 monounsaturated fatty acids IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022230 cholesterol in very large VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022233 cholesterol to total lipids in IDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022236 cholesterol to total lipids in large VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022239 cholesterol to total lipids in medium VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022240 cholesterol to total lipids in small HDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022242 cholesterol to total lipids in small VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022244 cholesterol to total lipids in very large VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022245 cholesterol to total lipids in very small VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022247 cholesteryl esters to total lipids in IDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022250 cholesteryl esters to total lipids in large VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022251 cholesteryl esters to total lipids in medium HDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022253 cholesteryl esters to total lipids in medium VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022254 cholesteryl esters to total lipids in small HDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022255 cholesteryl esters to total lipids in small LDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022256 cholesteryl esters to total lipids in small VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022258 cholesteryl esters to total lipids in very large VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022259 cholesteryl esters to total lipids in very small VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022260 concentration of chylomicrons and extremely large VLDL particles measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022261 degree of unsaturation measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022262 docosahexaenoic acid to total fatty acids percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022263 free cholesterol in chylomicrons and extremely large VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022265 free cholesterol in large VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022274 free cholesterol in very large VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022278 free cholesterol to total lipids in IDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022280 free cholesterol to total lipids in large LDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022283 free cholesterol to total lipids in medium LDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022284 free cholesterol to total lipids in medium VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022285 free cholesterol to total lipids in small HDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022286 free cholesterol to total lipids in small LDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022287 free cholesterol to total lipids in small VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022289 free cholesterol to total lipids in very large VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022290 free cholesterol to total lipids in very small VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022292 phospholipids in chylomicrons and extremely large VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022299 phospholipids in very large VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022302 polyunsaturated fatty acids to monounsaturated fatty acids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022303 polyunsaturated fatty acids to total fatty acids percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022304 saturated fatty acids measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022305 saturated fatty acids to total fatty acids percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022313 total lipids in very large VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022314 total lipids in VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022317 triglycerides in HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022321 triglycerides in medium HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022323 triglycerides in small LDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022324 triglycerides in very large HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022325 triglycerides in very large VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022326 triglycerides in VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022327 triglycerides to phosphoglycerides ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022328 triglycerides to total lipids in chylomicrons and extremely large VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022329 triglycerides to total lipids in IDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022334 triglycerides to total lipids in medium LDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022335 triglycerides to total lipids in medium VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022336 triglycerides to total lipids in small HDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022337 triglycerides to total lipids in small LDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022338 triglycerides to total lipids in small VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022339 triglycerides to total lipids in very large HDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022340 triglycerides to total lipids in very large VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:0022341 triglycerides to total lipids in very small VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11087721 CV227756 NM_005577.4(LPA):c.3947+467T>C variant EFO:GO:0036273 response to statin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25350695 11087726 CV227769 NC_000010.11:g.94645745G>A variant EFO:GO:0061476 response to anticoagulant IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28686080 11087728 CV227786 NM_024006.6(VKORC1):c.173+525C>T variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11087731 CV227828 NC_000002.11:g.208494234T>C variant EFO:GO:0014072 response to isoquinoline alkaloid IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23183491 11087732 CV227796 NC_000018.9:g.57851097T>C variant EFO:0001073 obesity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:19151714 11087732 CV227796 NC_000018.9:g.57851097T>C variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:19079261 11087734 CV227751 NM_001075.6(UGT2B10):c.199G>T (p.Asp67Tyr) variant EFO:0004570 bilirubin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11087736 CV227832 NC_000011.9:g.103418158A>G variant EFO:0000702 small cell lung carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:21118971 11087738 CV227746 NM_007120.3(UGT1A4):c.142T>G (p.Leu48Val) variant EFO:0004631 vitamin D measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32059762 11087738 CV227746 NM_007120.3(UGT1A4):c.142T>G (p.Leu48Val) variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 11087738 CV227746 NM_007120.3(UGT1A4):c.142T>G (p.Leu48Val) variant EFO:0004908 testosterone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35192695 11087738 CV227746 NM_007120.3(UGT1A4):c.142T>G (p.Leu48Val) variant EFO:0600039 plasma N-desmethylclozapine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30922102 11087738 CV227746 NM_007120.3(UGT1A4):c.142T>G (p.Leu48Val) variant EFO:0800586 pregnenetriol sulfate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 11087738 CV227746 NM_007120.3(UGT1A4):c.142T>G (p.Leu48Val) variant EFO:0800587 pregnenetriol disulfate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11087738 CV227746 NM_007120.3(UGT1A4):c.142T>G (p.Leu48Val) variant EFO:0800814 X-21441 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11087739 CV227750 NM_001076.4(UGT2B15):c.253T>G (p.Tyr85Asp) variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11087739 CV227750 NM_001076.4(UGT2B15):c.253T>G (p.Tyr85Asp) variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34321204 11087739 CV227750 NM_001076.4(UGT2B15):c.253T>G (p.Tyr85Asp) variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11087739 CV227750 NM_001076.4(UGT2B15):c.253T>G (p.Tyr85Asp) variant EFO:0800119 vanillylmandelate (VMA) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 11087739 CV227750 NM_001076.4(UGT2B15):c.253T>G (p.Tyr85Asp) variant EFO:0800360 5alpha-androstan-3alpha,17beta-diol 17-glucuronide measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 11087739 CV227750 NM_001076.4(UGT2B15):c.253T>G (p.Tyr85Asp) variant EFO:0800879 X-24418 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 11087741 CV227788 NM_000078.3(CETP):c.658+186C>A variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35884923 11087741 CV227788 NM_000078.3(CETP):c.658+186C>A variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30911093 11087741 CV227788 NM_000078.3(CETP):c.658+186C>A variant EFO:0010226 phosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 11087741 CV227788 NM_000078.3(CETP):c.658+186C>A variant EFO:0010230 phosphatidylinositol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 11087741 CV227788 NM_000078.3(CETP):c.658+186C>A variant EFO:OBA:2045072 level of Phosphatidylcholine (16:0_18:3) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36193934 11087742 CV227782 NC_000016.10:g.31099660G>A variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 11087742 CV227782 NC_000016.10:g.31099660G>A variant EFO:0009931 Agents acting on the renin-angiotensin system use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11087743 CV227741 NM_002004.4(FDPS):c.-1-98T>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11087750 CV227792 NM_000173.7(GP1BA):c.482C>T (p.Thr161Met) variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:20139978 11087750 CV227792 NM_000173.7(GP1BA):c.482C>T (p.Thr161Met) variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38064665 11087750 CV227792 NM_000173.7(GP1BA):c.482C>T (p.Thr161Met) variant EFO:HP:0001873 Thrombocytopenia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38064665 11087757 CV227747 NM_001072.4(UGT1A6):c.862-7110C>T variant EFO:0004570 bilirubin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 11087757 CV227747 NM_001072.4(UGT1A6):c.862-7110C>T variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 11087757 CV227747 NM_001072.4(UGT1A6):c.862-7110C>T variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:21886157 11087757 CV227747 NM_001072.4(UGT1A6):c.862-7110C>T variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11087757 CV227747 NM_001072.4(UGT1A6):c.862-7110C>T variant EFO:0005653 serum metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24625756 11087757 CV227747 NM_001072.4(UGT1A6):c.862-7110C>T variant EFO:0006794 obsolete_cerebrospinal fluid biomarker measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528826 11087757 CV227747 NM_001072.4(UGT1A6):c.862-7110C>T variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11087757 CV227747 NM_001072.4(UGT1A6):c.862-7110C>T variant EFO:0021033 biliverdin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24816252 11087757 CV227747 NM_001072.4(UGT1A6):c.862-7110C>T variant EFO:0021235 X-11441 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 11087757 CV227747 NM_001072.4(UGT1A6):c.862-7110C>T variant EFO:0021236 X-11442 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 11087757 CV227747 NM_001072.4(UGT1A6):c.862-7110C>T variant EFO:0021249 X-11530 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24816252 11087757 CV227747 NM_001072.4(UGT1A6):c.862-7110C>T variant EFO:0021260 X-11793--oxidized bilirubin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24816252 11087757 CV227747 NM_001072.4(UGT1A6):c.862-7110C>T variant EFO:0022118 Succinimide measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 11087757 CV227747 NM_001072.4(UGT1A6):c.862-7110C>T variant EFO:0800696 X-11522 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 11087757 CV227747 NM_001072.4(UGT1A6):c.862-7110C>T variant EFO:0800766 X-16946 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 11087757 CV227747 NM_001072.4(UGT1A6):c.862-7110C>T variant EFO:0800816 X-21448 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 11087757 CV227747 NM_001072.4(UGT1A6):c.862-7110C>T variant EFO:0800825 X-21796 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 11087757 CV227747 NM_001072.4(UGT1A6):c.862-7110C>T variant EFO:0800909 X-24849 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 11087757 CV227747 NM_001072.4(UGT1A6):c.862-7110C>T variant EFO:HP:0002904 Hyperbilirubinemia IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36580335 11087762 CV228117 NM_000527.5(LDLR):c.81C>G (p.Cys27Trp) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:19060911 11087762 CV228117 NM_000527.5(LDLR):c.81C>G (p.Cys27Trp) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:19060911 11087790 CV227785 NM_024006.6(VKORC1):c.283+124G>C variant EFO:0004341 body fat distribution IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30664634 11087797 CV227772 NM_000771.4(CYP2C9):c.820-6326A>C variant EFO:0021258 X-11787 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11087833 CV227819 NM_001351169.2(NT5C2):c.175+1178A>G variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11087833 CV227819 NM_001351169.2(NT5C2):c.175+1178A>G variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11087835 CV227834 NM_033394.3(TANC1):c.-15-22919G>T variant EFO:GO:0009314 response to radiation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24974847 11087838 CV140733 NM_001077415.3(CRELD1):c.1049-393C>T variant EFO:0021870 cysteine-rich with EGF-like domain protein 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 11087839 CV140734 NM_001077415.3(CRELD1):c.1049-376T>C variant EFO:0021870 cysteine-rich with EGF-like domain protein 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 11088065 CV229643 NM_001018116.2(CAVIN4):c.996G>A (p.Arg332=) variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30239722 11091350 CV229405 NM_006073.4(TRDN):c.1105+5G>A variant EFO:MONDO:0001703 color vision disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37359372 11091470 CV228928 NM_181458.4(PAX3):c.1174-10G>C variant EFO:0004464 obsolete_brain measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34910505 11091488 CV230383 NM_001378609.3(OTOGL):c.3333G>T (p.Gln1111His) variant EFO:HP:0002321 Vertigo IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34620984 11092122 CV229062 NM_152393.4(KLHL40):c.1034A>G (p.Asn345Ser) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36581621 11092281 CV230061 NM_001292063.2(OTOG):c.1087A>T (p.Thr363Ser) variant EFO:HP:0002321 Vertigo IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34620984 11093333 CV230151 NM_001292063.2(OTOG):c.7480+11A>T variant EFO:0005272 obsolete_sleep quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27126917 11093778 CV229677 NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val) variant EFO:0006955 ADAMTS13 activity measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25934476 11093778 CV229677 NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val) variant EFO:0009269 ADAMTS13 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11093892 CV231492 NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met) variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11094821 CV231312 NM_201384.3(PLEC):c.1264-15G>A variant EFO:0004838 calcium measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11094855 CV228440 NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11094855 CV228440 NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27618448 11094855 CV228440 NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27618448 11094855 CV228440 NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu) variant EFO:0006340 mean arterial pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27618448 11345886 CV241567 NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu) variant EFO:MONDO:0004976 amyotrophic lateral sclerosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34873335 11346166 CV242565 NM_002386.4(MC1R):c.425G>A (p.Arg142His) variant EFO:0003924 hair color IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30531825 11346166 CV242565 NM_002386.4(MC1R):c.425G>A (p.Arg142His) variant EFO:0007822 obsolete_hair colour measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34737426 11348474 CV243617 NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser) variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11349406 CV239956 NM_003227.4(TFR2):c.1473G>A (p.Glu491=) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24777453 11349406 CV239956 NM_003227.4(TFR2):c.1473G>A (p.Glu491=) variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11349406 CV239956 NM_003227.4(TFR2):c.1473G>A (p.Glu491=) variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 11349410 CV242566 NM_002386.4(MC1R):c.464T>C (p.Ile155Thr) variant EFO:0003924 hair color IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30531825 11349749 CV243282 NM_145045.5(ODAD3):c.729C>T (p.Asn243=) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39537608 11350077 CV243010 NM_017950.4(CCDC40):c.2784C>T (p.Ile928=) variant EFO:0001071 lung carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32887889 11350508 CV238353 NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11350576 CV236951 NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met) variant EFO:OBA:2043558 level of sphingomyelin phosphodiesterase in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 11350974 CV236978 NM_005689.4(ABCB6):c.826C>T (p.Arg276Trp) variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11350974 CV236978 NM_005689.4(ABCB6):c.826C>T (p.Arg276Trp) variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11350974 CV236978 NM_005689.4(ABCB6):c.826C>T (p.Arg276Trp) variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 11350974 CV236978 NM_005689.4(ABCB6):c.826C>T (p.Arg276Trp) variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11351034 CV237221 NM_001374504.1(TMPRSS6):c.1309C>T (p.Arg437Trp) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11351034 CV237221 NM_001374504.1(TMPRSS6):c.1309C>T (p.Arg437Trp) variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11524051 CV244701 NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met) variant EFO:MONDO:0005575 colorectal cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 11524383 CV245302 NC_000019.10:g.11089332C>T variant EFO:0004529 lipid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23726366 11524939 CV245782 NM_000527.5(LDLR):c.769C>T (p.Arg257Trp) variant EFO:0007804 LDL cholesterol change measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26690388 11525036 CV246298 NM_000527.5(LDLR):c.1725C>T (p.Leu575=) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11525036 CV246298 NM_000527.5(LDLR):c.1725C>T (p.Leu575=) variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11525085 CV245365 NM_000527.5(LDLR):c.81C>T (p.Cys27=) variant EFO:0008591 free cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32150548 11525085 CV245365 NM_000527.5(LDLR):c.81C>T (p.Cys27=) variant EFO:0008595 intermediate density lipoprotein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32150548 11525085 CV245365 NM_000527.5(LDLR):c.81C>T (p.Cys27=) variant EFO:0010351 cholesteryl ester measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11525213 CV246290 NM_000527.5(LDLR):c.1706-69G>T variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11525213 CV246290 NM_000527.5(LDLR):c.1706-69G>T variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0001645 coronary artery disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29212778 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0003914 atherosclerosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:21909108 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0004214 Abdominal Aortic Aneurysm IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27899403 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0004300 obsolete_longevity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32678081 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:20686565 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30926973 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0004631 vitamin D measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0004746 lipoprotein-associated phospholipase A(2) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:22003152 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0006312 mitochondrial DNA measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35023831 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0007796 parental longevity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32678081 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0008317 obsolete_vldl cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0008589 esterified cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0008591 free cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0008595 intermediate density lipoprotein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0009762 healthspan IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32678081 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0009932 HMG CoA reductase inhibitor use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31015401 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0010118 sphingomyelin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0010351 cholesteryl ester measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0020875 fatty acid change measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0020943 cholesterol:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0020944 cholesteryl esters:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0020945 free cholesterol:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0020946 phospholipids:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0020947 triglycerides:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0021897 apolipoprotein B to apolipoprotein A1 ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0022148 total lipids in small VLDL IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0022153 total lipids in medium VLDL IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0022154 phospholipids in medium VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0022165 cholesterol esters in large LDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0022167 total cholesterol in large LDL IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0022168 total lipids in small LDL IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0022174 phospholipids in large LDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0022176 free cholesterol in large LDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0022179 total cholesterol in small LDL IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0022181 free cholesterol in IDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0022184 total cholesterol in IDL IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0022185 total cholesterol in medium LDL IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0022186 cholesterol esters in medium LDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0022268 free cholesterol in medium LDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0022270 free cholesterol in small HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0022271 free cholesterol in small LDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0022276 free cholesterol in VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0022295 phospholipids in medium HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0022301 phospholipids in VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:0022319 triglycerides in large LDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11525549 CV245354 NM_000527.5(LDLR):c.67+2015G>T variant EFO:OBA:2045128 level of Phosphatidylcholine (O-18:1_16:0) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36193934 11525656 CV246991 NM_006633.5(IQGAP2):c.322C>T (p.Arg108Ter) variant EFO:0005036 obsolete_platelet measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 11525970 CV247031 NM_000662.8(NAT1):c.190C>T (p.Arg64Trp) variant EFO:0020023 N-acetyltaurine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 11542264 CV249450 NM_003126.4(SPTA1):c.3570-12C>T variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11542271 CV213645 NM_000419.5(ITGA2B):c.439C>G (p.Leu147Val) variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11542309 CV249454 NM_003126.4(SPTA1):c.2874G>A (p.Leu958=) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28898252 11542309 CV249454 NM_003126.4(SPTA1):c.2874G>A (p.Leu958=) variant EFO:0007629 hemoglobin A1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29844224 11542313 CV249402 NM_007272.3(CTRC):c.180C>T (p.Gly60=) variant EFO:0021524 non-alcoholic pancreatitis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35331647 11542355 CV249411 NM_000157.4(GBA1):c.1225-34C>A variant EFO:OBA:2041678 level of lysosomal acid glucosylceramidase in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 11542358 CV249484 NM_004431.5(EPHA2):c.824-11G>A variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11542388 CV227383 NM_002386.4(MC1R):c.359T>C (p.Ile120Thr) variant EFO:0003784 obsolete_skin pigmentation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38849341 11542404 CV249446 NM_003126.4(SPTA1):c.4195-12G>A variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11542753 CV254022 NM_001040151.2(SCN3B):c.438C>T (p.Thr146=) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11542753 CV254022 NM_001040151.2(SCN3B):c.438C>T (p.Thr146=) variant EFO:OBA:2043405 level of sodium channel subunit beta-3 in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 11542793 CV257222 NM_016363.5(GP6):c.655C>T (p.Pro219Ser) variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11542793 CV257222 NM_016363.5(GP6):c.655C>T (p.Pro219Ser) variant EFO:0004985 obsolete_platelet reactivity measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34581777 11542793 CV257222 NM_016363.5(GP6):c.655C>T (p.Pro219Ser) variant EFO:0006312 mitochondrial DNA measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35023831 11542793 CV257222 NM_016363.5(GP6):c.655C>T (p.Pro219Ser) variant EFO:0007984 platelet component distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11542793 CV257222 NM_016363.5(GP6):c.655C>T (p.Pro219Ser) variant EFO:0010620 dickkopf‐related protein 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33067605 11542808 CV251430 NM_000128.4(F11):c.801A>G (p.Thr267=) variant EFO:0011013 vaginal microbiome measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34282934 11542856 CV254303 NM_002180.3(IGHMBP2):c.2011A>G (p.Thr671Ala) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36581621 11542856 CV254303 NM_002180.3(IGHMBP2):c.2011A>G (p.Thr671Ala) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29083408 11542877 CV250581 NM_003590.5(CUL3):c.1699G>A (p.Val567Ile) variant EFO:0004875 mathematical ability IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30038396 11542973 CV253395 NM_139027.6(ADAMTS13):c.3097G>A (p.Ala1033Thr) variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11542975 CV249990 NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr) variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37669986 11542975 CV249990 NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30275531 11542975 CV249990 NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37669986 11543011 CV255634 NM_001009944.3(PKD1):c.3375C>T (p.Ser1125=) variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34272381 11543092 CV251821 NM_002609.4(PDGFRB):c.2601A>G (p.Leu867=) variant EFO:0007989 monocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11543092 CV251821 NM_002609.4(PDGFRB):c.2601A>G (p.Leu867=) variant EFO:0007997 granulocyte percentage of myeloid white cells IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11543105 CV254817 NM_019616.4(F7):c.740-20G>A variant EFO:0004619 factor VII measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 11543105 CV254817 NM_019616.4(F7):c.740-20G>A variant EFO:0010623 tissue factor measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33067605 11543110 CV255300 NM_182758.4(WDR72):c.1407T>C (p.Tyr469=) variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11543182 CV253931 NM_016341.4(PLCE1):c.1643G>T (p.Arg548Leu) variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30778226 11543185 CV254285 NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) variant EFO:0003923 obsolete_bone density IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:18455228 11543185 CV254285 NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) variant EFO:0003931 bone fracture IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30158200 11543185 CV254285 NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31761296 11543243 CV250477 NM_002381.5(MATN3):c.754G>A (p.Glu252Lys) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11543243 CV250477 NM_002381.5(MATN3):c.754G>A (p.Glu252Lys) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11543243 CV250477 NM_002381.5(MATN3):c.754G>A (p.Glu252Lys) variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11543243 CV250477 NM_002381.5(MATN3):c.754G>A (p.Glu252Lys) variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11543250 CV256739 NM_003331.5(TYK2):c.2051T>G (p.Ile684Ser) variant EFO:0000384 Crohn's disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26192919 11543250 CV256739 NM_003331.5(TYK2):c.2051T>G (p.Ile684Ser) variant EFO:0000685 rheumatoid arthritis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35470158 11543250 CV256739 NM_003331.5(TYK2):c.2051T>G (p.Ile684Ser) variant EFO:0000729 ulcerative colitis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26192919 11543250 CV256739 NM_003331.5(TYK2):c.2051T>G (p.Ile684Ser) variant EFO:0003767 inflammatory bowel disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26192919 11543250 CV256739 NM_003331.5(TYK2):c.2051T>G (p.Ile684Ser) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11543250 CV256739 NM_003331.5(TYK2):c.2051T>G (p.Ile684Ser) variant EFO:0004995 lean body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 11543250 CV256739 NM_003331.5(TYK2):c.2051T>G (p.Ile684Ser) variant EFO:0007791 rheumatoid factor seropositivity measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35470158 11543250 CV256739 NM_003331.5(TYK2):c.2051T>G (p.Ile684Ser) variant EFO:0009459 ACPA-positive rheumatoid arthritis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35470158 11543262 CV253500 NM_000077.5(CDKN2A):c.150+1255C>A variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11543262 CV253500 NM_000077.5(CDKN2A):c.150+1255C>A variant EFO:0005090 basophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11543263 CV256230 NM_000212.3(ITGB3):c.2301+9C>T variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 11543263 CV256230 NM_000212.3(ITGB3):c.2301+9C>T variant EFO:0010118 sphingomyelin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33414548 11543310 CV251234 NM_021971.4(GMPPB):c.376C>G (p.His126Asp) variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33097823 11543330 CV256462 NM_000546.6(TP53):c.672+62A>G variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11543330 CV256462 NM_000546.6(TP53):c.672+62A>G variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11543330 CV256462 NM_000546.6(TP53):c.672+62A>G variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11543330 CV256462 NM_000546.6(TP53):c.672+62A>G variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11543330 CV256462 NM_000546.6(TP53):c.672+62A>G variant EFO:0004908 testosterone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11543356 CV256691 NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln) variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11543356 CV256691 NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32327693 11543356 CV256691 NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 11543356 CV256691 NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 11543356 CV256691 NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln) variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11543387 CV256087 NM_000934.4(SERPINF2):c.97C>T (p.Arg33Trp) variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34321204 11543389 CV249952 NM_001365999.1(SZT2):c.8626-3T>C variant EFO:OBA:2001009 age of onset of Parkinson disease IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39503264 11543401 CV255450 NM_001271.4(CHD2):c.5416A>C (p.Arg1806=) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11543502 CV255788 NM_002968.3(SALL1):c.3456C>T (p.His1152=) variant EFO:0004283 goiter IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11543502 CV255788 NM_002968.3(SALL1):c.3456C>T (p.His1152=) variant EFO:0004698 insomnia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35835914 11543513 CV254709 NM_002076.4(GNS):c.1598G>A (p.Arg533His) variant EFO:0020586 n-acetylglucosamine-6-sulfatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 11543557 CV253490 NM_001379081.2(FREM1):c.4785C>T (p.Ala1595=) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 11543573 CV249920 NM_001852.4(COL9A2):c.630+13G>T variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33097823 11543573 CV249920 NM_001852.4(COL9A2):c.630+13G>T variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11543603 CV255596 NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30578418 11543664 CV249576 NM_005562.3(LAMC2):c.798T>G (p.Gly266=) variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31151762 11543685 CV251988 NM_001177693.2(ARHGEF28):c.945T>C (p.Ala315=) variant EFO:0004238 hearing loss IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36788145 11543685 CV251988 NM_001177693.2(ARHGEF28):c.945T>C (p.Ala315=) variant EFO:0009720 able to hear with hearing aids IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36788145 11543692 CV251496 NM_006206.6(PDGFRA):c.1809G>A (p.Ala603=) variant EFO:0021844 platelet-derived growth factor receptor alpha measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34857772 11543695 CV254920 NM_002471.4(MYH6):c.2292+18C>T variant EFO:0004351 obsolete_resting heart rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:20639392 11543695 CV254920 NM_002471.4(MYH6):c.2292+18C>T variant EFO:0005094 P wave duration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28794112 11543695 CV254920 NM_002471.4(MYH6):c.2292+18C>T variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27618448 11543695 CV254920 NM_002471.4(MYH6):c.2292+18C>T variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27618447 11543740 CV256090 NM_000934.4(SERPINF2):c.1301G>A (p.Arg434Lys) variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11543740 CV256090 NM_000934.4(SERPINF2):c.1301G>A (p.Arg434Lys) variant EFO:0004535 obsolete_serum albumin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11543740 CV256090 NM_000934.4(SERPINF2):c.1301G>A (p.Arg434Lys) variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11543740 CV256090 NM_000934.4(SERPINF2):c.1301G>A (p.Arg434Lys) variant EFO:0004838 calcium measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11543740 CV256090 NM_000934.4(SERPINF2):c.1301G>A (p.Arg434Lys) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11543740 CV256090 NM_000934.4(SERPINF2):c.1301G>A (p.Arg434Lys) variant EFO:0010972 blood phosphate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11543740 CV256090 NM_000934.4(SERPINF2):c.1301G>A (p.Arg434Lys) variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34737425 11543746 CV252448 NM_000129.4(F13A1):c.1694C>T (p.Pro565Leu) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11543746 CV252448 NM_000129.4(F13A1):c.1694C>T (p.Pro565Leu) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11543804 CV252233 NM_000500.9(CYP21A2):c.738+13C>T variant EFO:0004984 complement C4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33941608 11543826 CV253117 NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32327693 11543826 CV253117 NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11543826 CV253117 NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val) variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11543826 CV253117 NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11543826 CV253117 NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val) variant EFO:0004570 bilirubin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11543826 CV253117 NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val) variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11543826 CV253117 NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val) variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11543826 CV253117 NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val) variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11543826 CV253117 NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val) variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11543833 CV250471 NM_014585.6(SLC40A1):c.-98G>C variant EFO:0004461 iron biomarker measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35568031 11543837 CV255790 NM_002968.3(SALL1):c.2574C>T (p.Leu858=) variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30388399 11543837 CV255790 NM_002968.3(SALL1):c.2574C>T (p.Leu858=) variant EFO:0004698 insomnia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35835914 11543847 CV255145 NM_000275.3(OCA2):c.1065G>A (p.Ala355=) variant EFO:0007009 obsolete_skin pigmentation measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31315583 11543862 CV255637 NM_001009944.3(PKD1):c.3275T>C (p.Met1092Thr) variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11543862 CV255637 NM_001009944.3(PKD1):c.3275T>C (p.Met1092Thr) variant EFO:0010736 obsolete_cortical surface area measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34560273 11543867 CV250575 NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys) variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35995766 11543883 CV254006 NM_014956.5(CEP164):c.3356A>G (p.Gln1119Arg) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36581621 11543883 CV254006 NM_014956.5(CEP164):c.3356A>G (p.Gln1119Arg) variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11543883 CV254006 NM_014956.5(CEP164):c.3356A>G (p.Gln1119Arg) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11543883 CV254006 NM_014956.5(CEP164):c.3356A>G (p.Gln1119Arg) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30578418 11543883 CV254006 NM_014956.5(CEP164):c.3356A>G (p.Gln1119Arg) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11543883 CV254006 NM_014956.5(CEP164):c.3356A>G (p.Gln1119Arg) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11543883 CV254006 NM_014956.5(CEP164):c.3356A>G (p.Gln1119Arg) variant EFO:0007929 triglyceride:HDL cholesterol ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38200128 11543897 CV250533 NM_000384.3(APOB):c.1594C>T (p.Arg532Trp) variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37479695 11543897 CV250533 NM_000384.3(APOB):c.1594C>T (p.Arg532Trp) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26690388 11543897 CV250533 NM_000384.3(APOB):c.1594C>T (p.Arg532Trp) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 11543897 CV250533 NM_000384.3(APOB):c.1594C>T (p.Arg532Trp) variant EFO:0007804 LDL cholesterol change measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26690388 11543897 CV250533 NM_000384.3(APOB):c.1594C>T (p.Arg532Trp) variant EFO:OBA:2040626 level of apolipoprotein C-III in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37479695 11543908 CV257885 NM_000216.4(ANOS1):c.1833C>T (p.Ile611=) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11543924 CV252322 NM_001365276.2(TNXB):c.1734C>T (p.Asp578=) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11543924 CV252322 NM_001365276.2(TNXB):c.1734C>T (p.Asp578=) variant EFO:0008179 interleukin 18 receptor accessory protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11543944 CV251985 NM_001177693.2(ARHGEF28):c.673T>C (p.Trp225Arg) variant EFO:0004238 hearing loss IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36788145 11543944 CV251985 NM_001177693.2(ARHGEF28):c.673T>C (p.Trp225Arg) variant EFO:0009720 able to hear with hearing aids IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36788145 11543949 CV249526 NM_000130.5(F5):c.237A>G (p.Gln79=) variant EFO:0004310 obsolete_partial thromboplastin time IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:22703881 11544012 CV256415 NM_199242.3(UNC13D):c.3198A>G (p.Glu1066=) variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32042192 11544012 CV256415 NM_199242.3(UNC13D):c.3198A>G (p.Glu1066=) variant EFO:0007629 hemoglobin A1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11544025 CV251363 NM_001378615.1(CC2D2A):c.*21G>C variant EFO:0004346 neuroimaging measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33875891 11544025 CV251363 NM_001378615.1(CC2D2A):c.*21G>C variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11544025 CV251363 NM_001378615.1(CC2D2A):c.*21G>C variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11544025 CV251363 NM_001378615.1(CC2D2A):c.*21G>C variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11544025 CV251363 NM_001378615.1(CC2D2A):c.*21G>C variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11544025 CV251363 NM_001378615.1(CC2D2A):c.*21G>C variant EFO:0008579 risk-taking behaviour IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30643258 11544025 CV251363 NM_001378615.1(CC2D2A):c.*21G>C variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11544033 CV254432 NM_000017.4(ACADS):c.*21G>C variant EFO:0005116 urinary metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31959995 11544033 CV254432 NM_000017.4(ACADS):c.*21G>C variant EFO:0006794 obsolete_cerebrospinal fluid biomarker measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528826 11544033 CV254432 NM_000017.4(ACADS):c.*21G>C variant EFO:0010469 carnitine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33414548 11544033 CV254432 NM_000017.4(ACADS):c.*21G>C variant EFO:0020009 ethylmalonate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 11544033 CV254432 NM_000017.4(ACADS):c.*21G>C variant EFO:0800129 methylsuccinate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 11544033 CV254432 NM_000017.4(ACADS):c.*21G>C variant EFO:0800201 butyrylcarnitine (C4) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11544033 CV254432 NM_000017.4(ACADS):c.*21G>C variant EFO:0803580 methylsuccinoylcarnitine measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528826 11544050 CV255027 NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39280063 11544066 CV250632 NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr) variant EFO:0004285 albuminuria IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35763030 11544066 CV250632 NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr) variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35763030 11544066 CV250632 NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr) variant EFO:0009909 stage 5 chronic kidney disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35763030 11544066 CV250632 NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr) variant EFO:HP:0012594 Moderate albuminuria IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35763030 11544078 CV257511 NM_001379500.1(COL18A1):c.3610G>A (p.Ala1204Thr) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11544078 CV257511 NM_001379500.1(COL18A1):c.3610G>A (p.Ala1204Thr) variant EFO:0020347 endostatin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11544119 CV251930 NM_182925.5(FLT4):c.445A>G (p.Asn149Asp) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11544119 CV251930 NM_182925.5(FLT4):c.445A>G (p.Asn149Asp) variant EFO:0008315 obsolete_vascular endothelial growth factor receptor 3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11544127 CV256579 NM_001378183.1(PIEZO2):c.4135G>A (p.Val1379Ile) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 11544204 CV255648 NM_001009944.3(PKD1):c.2700G>A (p.Pro900=) variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 11544225 CV251199 NM_000094.4(COL7A1):c.2817A>G (p.Pro939=) variant EFO:0009749 age at first sexual intercourse measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27089180 11544234 CV255331 NM_004727.3(SLC24A1):c.109A>T (p.Thr37Ser) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36581621 11544234 CV255331 NM_004727.3(SLC24A1):c.109A>T (p.Thr37Ser) variant EFO:0004459 ferritin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33536631 11544260 CV253416 NM_000093.5(COL5A1):c.1720-47C>T variant EFO:GO:0036277 response to anticonvulsant IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39258169 11544260 CV253416 NM_000093.5(COL5A1):c.1720-47C>T variant EFO:HP:0012532 Chronic pain IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39258169 11544279 CV254015 NM_000190.4(HMBS):c.606G>T (p.Val202=) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11544302 CV250657 NM_152383.5(DIS3L2):c.2646A>G (p.Ser882=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11544311 CV252353 NM_018965.4(TREM2):c.259G>A (p.Asp87Asn) variant EFO:0010151 soluble triggering receptor expressed on myeloid cells 2 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38172904 11544371 CV249504 NM_000130.5(F5):c.3948C>T (p.Leu1316=) variant EFO:0801834 neuronal pentraxin-2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11544371 CV249504 NM_000130.5(F5):c.3948C>T (p.Leu1316=) variant EFO:0802065 sialic acid-binding Ig-like lectin 11 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11544464 CV255533 NM_001009944.3(PKD1):c.10535C>T (p.Ala3512Val) variant EFO:0005091 monocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11544530 CV253380 NM_139027.6(ADAMTS13):c.686+4T>G variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11544535 CV256310 NM_000789.4(ACE):c.3387T>C (p.Phe1129=) variant EFO:0004463 obsolete_angiotensin converting enzyme activity measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 11544537 CV255011 NM_001355436.2(SPTB):c.4476T>C (p.Leu1492=) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36581621 11544628 CV251100 NM_001106.4(ACVR2B):c.333A>G (p.Glu111=) variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 11544633 CV257373 NM_020436.5(SALL4):c.1520T>G (p.Leu507Arg) variant EFO:0003959 cleft lip IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28232668 11544633 CV257373 NM_020436.5(SALL4):c.1520T>G (p.Leu507Arg) variant EFO:HP:0000175 Cleft palate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28232668 11544655 CV253605 NM_000264.5(PTCH1):c.2887+21A>G variant EFO:0009603 stroke outcome severity measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30796134 11544751 CV257216 NM_016363.5(GP6):c.964A>C (p.Asn322His) variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11544751 CV257216 NM_016363.5(GP6):c.964A>C (p.Asn322His) variant EFO:0005036 obsolete_platelet measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 11544751 CV257216 NM_016363.5(GP6):c.964A>C (p.Asn322His) variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11544751 CV257216 NM_016363.5(GP6):c.964A>C (p.Asn322His) variant EFO:GO:0070527 platelet aggregation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29185836 11544761 CV252249 NM_001365276.2(TNXB):c.11650+10C>G variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11544761 CV252249 NM_001365276.2(TNXB):c.11650+10C>G variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11544896 CV257259 NM_004558.5(NRTN):c.175G>A (p.Ala59Thr) variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11544896 CV257259 NM_004558.5(NRTN):c.175G>A (p.Ala59Thr) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11544896 CV257259 NM_004558.5(NRTN):c.175G>A (p.Ala59Thr) variant EFO:0020525 lactoperoxidase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11544905 CV253375 NM_139027.6(ADAMTS13):c.173-18C>T variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11544964 CV251179 NM_015175.3(NBEAL2):c.4911C>T (p.Ser1637=) variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38658550 11545007 CV250052 NM_000642.3(AGL):c.1481G>A (p.Arg494His) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32778093 11545027 CV254346 NM_020376.4(PNPLA2):c.756C>G (p.Asn252Lys) variant EFO:0003095 non-alcoholic fatty liver disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37709864 11545027 CV254346 NM_020376.4(PNPLA2):c.756C>G (p.Asn252Lys) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 11545027 CV254346 NM_020376.4(PNPLA2):c.756C>G (p.Asn252Lys) variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11545027 CV254346 NM_020376.4(PNPLA2):c.756C>G (p.Asn252Lys) variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11545027 CV254346 NM_020376.4(PNPLA2):c.756C>G (p.Asn252Lys) variant EFO:0007929 triglyceride:HDL cholesterol ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38200128 11545027 CV254346 NM_020376.4(PNPLA2):c.756C>G (p.Asn252Lys) variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11545045 CV249592 NM_201253.3(CRB1):c.*28T>C variant EFO:0008149 hemopexin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 11545104 CV252023 NM_004385.5(VCAN):c.645A>G (p.Val215=) variant EFO:0004641 white matter integrity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33875891 11545109 CV251427 NM_207352.4(CYP4V2):c.775C>A (p.Gln259Lys) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29083408 11545139 CV253385 NM_139027.6(ADAMTS13):c.1852C>G (p.Pro618Ala) variant EFO:0008011 a disintegrin and metalloproteinase with thrombospondin motifs 13 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 11545182 CV249429 NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg) variant EFO:0005047 obsolete_erythrocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 11545203 CV255617 NM_001009944.3(PKD1):c.4665A>C (p.Ala1555=) variant EFO:0004995 lean body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 11545203 CV255617 NM_001009944.3(PKD1):c.4665A>C (p.Ala1555=) variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11545216 CV254453 NM_004064.5(CDKN1B):c.326T>G (p.Val109Gly) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11545216 CV254453 NM_004064.5(CDKN1B):c.326T>G (p.Val109Gly) variant EFO:0005091 monocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11545216 CV254453 NM_004064.5(CDKN1B):c.326T>G (p.Val109Gly) variant EFO:0007629 hemoglobin A1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11545216 CV254453 NM_004064.5(CDKN1B):c.326T>G (p.Val109Gly) variant EFO:0007989 monocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11545216 CV254453 NM_004064.5(CDKN1B):c.326T>G (p.Val109Gly) variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30297969 11545237 CV253068 NM_201384.3(PLEC):c.7426-35C>T variant EFO:0004314 forced expiratory volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 11545237 CV253068 NM_201384.3(PLEC):c.7426-35C>T variant EFO:GO:0097366 response to bronchodilator IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 11545260 CV249675 NM_015375.3(DSTYK):c.1921T>C (p.Cys641Arg) variant EFO:0004343 waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30575882 11545260 CV249675 NM_015375.3(DSTYK):c.1921T>C (p.Cys641Arg) variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30778226 11545368 CV252855 NM_000168.6(GLI3):c.2993C>T (p.Pro998Leu) variant EFO:0004840 cortical thickness IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34910505 11545368 CV252855 NM_000168.6(GLI3):c.2993C>T (p.Pro998Leu) variant EFO:0010083 obsolete_dentate gyrus volume measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37337106 11545368 CV252855 NM_000168.6(GLI3):c.2993C>T (p.Pro998Leu) variant EFO:0010736 obsolete_cortical surface area measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34560273 11545409 CV251185 NM_015175.3(NBEAL2):c.6560+31G>C variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11545411 CV255138 NM_000275.3(OCA2):c.1844A>G (p.His615Arg) variant EFO:0003949 eye color IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29109912 11545411 CV255138 NM_000275.3(OCA2):c.1844A>G (p.His615Arg) variant EFO:0007009 obsolete_skin pigmentation measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34570997 11545423 CV251220 NM_002292.4(LAMB2):c.1724G>A (p.Arg575Gln) variant EFO:0000305 breast carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29059683 11545443 CV256701 NM_013435.3(RAX):c.132C>A (p.Asp44Glu) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11545448 CV256742 NM_003331.5(TYK2):c.1084G>T (p.Val362Phe) variant EFO:1001486 primary biliary cirrhosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34033851 11545448 CV256742 NM_003331.5(TYK2):c.1084G>T (p.Val362Phe) variant EFO:MONDO:0100096 COVID-19 IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39361370 11545562 CV249516 NM_000130.5(F5):c.1926C>A (p.Thr642=) variant EFO:0008087 obsolete_coagulation factor v measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 11545613 CV256357 NM_004655.4(AXIN2):c.148C>T (p.Pro50Ser) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11545637 CV256535 NM_000199.5(SGSH):c.1182G>T (p.Met394Ile) variant EFO:OBA:2043486 level of N-sulphoglucosamine sulphohydrolase in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 11545650 CV249709 NM_001397.3(ECE1):c.1385G>A (p.Ser462Asn) variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11545664 CV250306 NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr) variant EFO:0000676 psoriasis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36323703 11545664 CV250306 NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr) variant EFO:0001645 coronary artery disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36323703 11545664 CV250306 NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr) variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11545664 CV250306 NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11545664 CV250306 NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr) variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11545664 CV250306 NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr) variant EFO:0006812 autoimmune thyroid disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32581359 11545664 CV250306 NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr) variant EFO:0007988 obsolete_myeloid white cell count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11545664 CV250306 NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr) variant EFO:0007989 monocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11545664 CV250306 NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr) variant EFO:1001929 selective IgA deficiency disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27723758 11545664 CV250306 NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr) variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33385400 11545664 CV250306 NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr) variant EFO:MONDO:0007915 systemic lupus erythematosus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:19838195 11545737 CV257433 NM_033409.4(SLC52A3):c.800C>T (p.Pro267Leu) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11545820 CV253941 NM_016341.4(PLCE1):c.5330C>T (p.Thr1777Ile) variant EFO:0002916 esophageal carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:20729852 11545869 CV251545 NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11545869 CV251545 NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11545869 CV251545 NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35710981 11545884 CV253073 NM_201384.3(PLEC):c.2923+37C>T variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32929287 11545941 CV254052 NM_001378964.1(CDON):c.484G>A (p.Glu162Lys) variant EFO:0008079 obsolete_cell adhesion molecule-related/down-regulated by oncogenes measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28240269 11545992 CV253724 NM_014915.3(ANKRD26):c.3913G>A (p.Val1305Ile) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29273807 11546015 CV253089 NM_177924.5(ASAH1):c.737T>C (p.Val246Ala) variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35995766 11546069 CV254321 NM_005472.5(KCNE3):c.198T>C (p.Phe66=) variant EFO:HP:0000483 Astigmatism IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:22144915 11546108 CV255772 NM_001379286.1(ZNF423):c.1869G>A (p.Pro623=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11546143 CV249498 NM_000130.5(F5):c.6443T>C (p.Met2148Thr) variant EFO:0008087 obsolete_coagulation factor v measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28240269 11546143 CV249498 NM_000130.5(F5):c.6443T>C (p.Met2148Thr) variant EFO:0801438 cadherin-7 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11546160 CV250153 NM_000312.4(PROC):c.-50A>T variant EFO:0004286 venous thromboembolism IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36777996 11546160 CV250153 NM_000312.4(PROC):c.-50A>T variant EFO:0004633 protein C measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28082259 11546160 CV250153 NM_000312.4(PROC):c.-50A>T variant EFO:0004778 self rated health IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:20707712 11546160 CV250153 NM_000312.4(PROC):c.-50A>T variant EFO:0008318 vitamin K-dependent protein C measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 11546221 CV255781 NM_016256.4(NAGPA):c.1394C>T (p.Thr465Ile) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11546221 CV255781 NM_016256.4(NAGPA):c.1394C>T (p.Thr465Ile) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11546264 CV255575 NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11546264 CV255575 NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) variant EFO:0005091 monocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11546278 CV256655 NM_003244.4(TGIF1):c.487C>T (p.Pro163Ser) variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38658550 11546278 CV256655 NM_003244.4(TGIF1):c.487C>T (p.Pro163Ser) variant EFO:0004761 uric acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11546278 CV256655 NM_003244.4(TGIF1):c.487C>T (p.Pro163Ser) variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11546278 CV256655 NM_003244.4(TGIF1):c.487C>T (p.Pro163Ser) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 11546278 CV256655 NM_003244.4(TGIF1):c.487C>T (p.Pro163Ser) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 11546278 CV256655 NM_003244.4(TGIF1):c.487C>T (p.Pro163Ser) variant EFO:0010067 corneal resistance factor IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35446358 11546365 CV251075 NM_001382273.1(TNK2):c.2219C>T (p.Pro740Leu) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35964923 11546372 CV254033 NM_001378964.1(CDON):c.3549C>T (p.Val1183=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11546375 CV249268 NM_001365951.3(KIF1B):c.1180+18C>T variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11546558 CV254059 NM_001254757.2(ST3GAL4):c.439T>C (p.Leu147=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11546558 CV254059 NM_001254757.2(ST3GAL4):c.439T>C (p.Leu147=) variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11546558 CV254059 NM_001254757.2(ST3GAL4):c.439T>C (p.Leu147=) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11546669 CV257670 NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11546669 CV257670 NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11546669 CV257670 NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11546669 CV257670 NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11546669 CV257670 NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28453575 11546669 CV257670 NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23222517 11546669 CV257670 NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:20139978 11546669 CV257670 NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333282 11546669 CV257670 NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) variant EFO:0004570 bilirubin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11546669 CV257670 NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) variant EFO:0005047 obsolete_erythrocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 11546669 CV257670 NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11546669 CV257670 NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11546669 CV257670 NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) variant EFO:0007629 hemoglobin A1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11546669 CV257670 NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11546669 CV257670 NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) variant EFO:0007985 platelet crit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11546669 CV257670 NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11546669 CV257670 NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 11546669 CV257670 NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11546669 CV257670 NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) variant EFO:0802142 transferrin receptor protein 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11546669 CV257670 NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) variant EFO:0803545 immature reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 11546716 CV254908 NM_001097577.3(ANG):c.330T>G (p.Gly110=) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11546770 CV252312 NM_001365276.2(TNXB):c.3482A>G (p.His1161Arg) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28739976 11546782 CV255553 NM_001009944.3(PKD1):c.8949-17A>G variant EFO:0000538 hypertrophic cardiomyopathy IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33495596 11546809 CV256599 NM_000271.5(NPC1):c.2911+28T>C variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 11546825 CV254180 NM_000506.5(F2):c.423-7G>C variant EFO:1000789 osteoarthritis, hand IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33055079 11546867 CV255299 NM_182758.4(WDR72):c.2455C>T (p.Leu819Phe) variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11546867 CV255299 NM_182758.4(WDR72):c.2455C>T (p.Leu819Phe) variant EFO:0004741 blood urea nitrogen measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31152163 11546867 CV255299 NM_182758.4(WDR72):c.2455C>T (p.Leu819Phe) variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35710981 11546885 CV253474 NM_019892.6(INPP5E):c.1280-24C>T variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11546896 CV252301 NM_001365276.2(TNXB):c.6696C>T (p.Asp2232=) variant EFO:0004875 mathematical ability IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30038396 11546896 CV252301 NM_001365276.2(TNXB):c.6696C>T (p.Asp2232=) variant EFO:0007869 wellbeing measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30643256 11546896 CV252301 NM_001365276.2(TNXB):c.6696C>T (p.Asp2232=) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11546896 CV252301 NM_001365276.2(TNXB):c.6696C>T (p.Asp2232=) variant EFO:0008354 cognitive function measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30038396 11546909 CV257672 NM_001374504.1(TMPRSS6):c.1536C>T (p.Asp512=) variant EFO:0004461 iron biomarker measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:19880490 11546909 CV257672 NM_001374504.1(TMPRSS6):c.1536C>T (p.Asp512=) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28017375 11546909 CV257672 NM_001374504.1(TMPRSS6):c.1536C>T (p.Asp512=) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:19853236 11546909 CV257672 NM_001374504.1(TMPRSS6):c.1536C>T (p.Asp512=) variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:19853236 11546909 CV257672 NM_001374504.1(TMPRSS6):c.1536C>T (p.Asp512=) variant EFO:0801012 thioproline measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11546911 CV249279 NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu) variant EFO:0004685 hip geometry IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39574169 11546988 CV249506 NM_000130.5(F5):c.3804T>C (p.Ser1268=) variant EFO:0801961 protein SEC13 homolog measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11547052 CV251214 NM_002292.4(LAMB2):c.2740G>A (p.Gly914Arg) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11547052 CV251214 NM_002292.4(LAMB2):c.2740G>A (p.Gly914Arg) variant EFO:0004698 insomnia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35835914 11547159 CV249939 NM_001365999.1(SZT2):c.1336C>T (p.Pro446Ser) variant EFO:0000537 hypertension IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 11547159 CV249939 NM_001365999.1(SZT2):c.1336C>T (p.Pro446Ser) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35964923 11547159 CV249939 NM_001365999.1(SZT2):c.1336C>T (p.Pro446Ser) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 11547159 CV249939 NM_001365999.1(SZT2):c.1336C>T (p.Pro446Ser) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 11547164 CV256305 NM_000789.4(ACE):c.1215C>T (p.Pro405=) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11547221 CV253114 NM_000037.4(ANK1):c.4974C>T (p.Asp1658=) variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11547263 CV251990 NM_001177693.2(ARHGEF28):c.1024+12C>T variant EFO:0004238 hearing loss IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36788145 11547263 CV251990 NM_001177693.2(ARHGEF28):c.1024+12C>T variant EFO:0009720 able to hear with hearing aids IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36788145 11547279 CV251177 NM_015175.3(NBEAL2):c.4704C>T (p.Asn1568=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11547284 CV255379 NM_001113378.2(FANCI):c.257C>T (p.Ala86Val) variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11547284 CV255379 NM_001113378.2(FANCI):c.257C>T (p.Ala86Val) variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 11547327 CV249508 NM_000130.5(F5):c.2594A>G (p.His865Arg) variant EFO:0008062 calcium/calmodulin-dependent protein kinase type 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11547366 CV250164 NM_001206744.2(TPO):c.12C>G (p.Leu4=) variant EFO:0004748 obsolete_thyroid stimulating hormone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32769997 11547484 CV252503 NM_004370.6(COL12A1):c.6479A>T (p.Glu2160Val) variant EFO:MONDO:0015486 keratoconus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33649486 11547507 CV250975 NM_004628.5(XPC):c.-27G>C variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34272381 11547518 CV252278 NM_001365276.2(TNXB):c.9050A>G (p.Lys3017Arg) variant EFO:0004984 complement C4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38116117 11547559 CV251138 NM_032806.6(POMGNT2):c.-43C>T variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11547593 CV254670 NM_000552.5(VWF):c.4641T>C (p.Thr1547=) variant EFO:0005036 obsolete_platelet measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 11547652 CV256010 NM_002386.4(MC1R):c.488G>A (p.Arg163Gln) variant EFO:0003924 hair color IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30531825 11547652 CV256010 NM_002386.4(MC1R):c.488G>A (p.Arg163Gln) variant EFO:0007009 obsolete_skin pigmentation measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36536295 11547669 CV255038 NM_001034852.3(SMOC1):c.126G>A (p.Gln42=) variant EFO:0003882 osteoporosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11547780 CV255977 NM_000135.4(FANCA):c.3348+18A>G variant EFO:0003924 hair color IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30531825 11547837 CV255545 NM_001009944.3(PKD1):c.9569-13T>C variant EFO:0004536 total blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11547931 CV252887 NM_031443.4(CCM2):c.157G>A (p.Val53Ile) variant EFO:0001645 coronary artery disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29212778 11547931 CV252887 NM_031443.4(CCM2):c.157G>A (p.Val53Ile) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 11547978 CV252589 NM_001458.5(FLNC):c.2390-14C>T variant EFO:0021534 abdominal fat cell number IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35320353 11547993 CV255024 NM_001355436.2(SPTB):c.2154A>C (p.Ile718=) variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11548037 CV257206 NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) variant EFO:0008101 contactin-5 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11548037 CV257206 NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) variant EFO:0008102 copine-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11548037 CV257206 NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) variant EFO:0020119 40s ribosomal protein SA measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11548037 CV257206 NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) variant EFO:0020366 eukaryotic initiation factor 4a-III measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11548037 CV257206 NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) variant EFO:0020508 interleukin-7 receptor subunit alpha measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11548037 CV257206 NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) variant EFO:0020687 protein s100-a9 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11548037 CV257206 NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) variant EFO:0801483 coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11548037 CV257206 NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) variant EFO:0801621 GDP-fucose protein O-fucosyltransferase 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11548037 CV257206 NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) variant EFO:0801653 grancalcin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11548037 CV257206 NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) variant EFO:0801971 protein-tyrosine sulfotransferase 2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11548037 CV257206 NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) variant EFO:0802132 thymocyte nuclear protein 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11548037 CV257206 NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) variant EFO:0802199 UPF0454 protein C12orf49 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11548037 CV257206 NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) variant EFO:0803314 CUB and Sushi domain-containing protein 2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11548037 CV257206 NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) variant EFO:0803540 eosinophil measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 11548037 CV257206 NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) variant EFO:0803547 monocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 11548037 CV257206 NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) variant EFO:0803548 neutrophil measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 11548044 CV250610 NM_000092.5(COL4A4):c.1444C>T (p.Pro482Ser) variant EFO:MONDO:0004892 refractive error IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35022715 11548056 CV251306 NM_000203.5(IDUA):c.1402+36T>C variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11548215 CV253111 NM_000037.4(ANK1):c.5479-3T>C variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39379762 11548236 CV255172 NM_002225.5(IVD):c.688-31T>C variant EFO:0800024 isovalerylcarnitine (C5) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11548273 CV249579 NM_005562.3(LAMC2):c.2688G>A (p.Gln896=) variant EFO:0004713 FEV/FVC ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36914875 11548290 CV257489 NM_001379500.1(COL18A1):c.1674+34A>C variant EFO:0020347 endostatin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11548375 CV254794 NM_001845.6(COL4A1):c.4800C>T (p.Ser1600=) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39537608 11548382 CV252289 NM_001365276.2(TNXB):c.7553G>A (p.Gly2518Glu) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11548382 CV252289 NM_001365276.2(TNXB):c.7553G>A (p.Gly2518Glu) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11548382 CV252289 NM_001365276.2(TNXB):c.7553G>A (p.Gly2518Glu) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11548394 CV251840 NM_012188.5(FOXI1):c.1044T>C (p.Tyr348=) variant EFO:0000222 acute myeloid leukemia IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27903959 11548416 CV255052 NM_005050.4(ABCD4):c.910G>A (p.Ala304Thr) variant EFO:0004620 vitamin B12 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39414775 11548505 CV249461 NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11548505 CV249461 NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys) variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11548505 CV249461 NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11548505 CV249461 NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys) variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11548505 CV249461 NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys) variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 11548507 CV251226 NM_000481.4(AMT):c.954G>A (p.Arg318=) variant EFO:0007874 gut microbiome measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27694959 11548551 CV255218 NM_001114134.2(EPB42):c.1279C>T (p.Arg427Cys) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11548568 CV251180 NM_015175.3(NBEAL2):c.4995G>A (p.Val1665=) variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38632349 11548620 CV253468 NM_019892.6(INPP5E):c.1549+23A>G variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11548620 CV253468 NM_019892.6(INPP5E):c.1549+23A>G variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 11548724 CV256879 NM_004646.4(NPHS1):c.349G>A (p.Glu117Lys) variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11548724 CV256879 NM_004646.4(NPHS1):c.349G>A (p.Glu117Lys) variant EFO:0004631 vitamin D measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32059762 11548724 CV256879 NM_004646.4(NPHS1):c.349G>A (p.Glu117Lys) variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35710981 11548727 CV251009 NM_198407.2(GHSR):c.477G>A (p.Arg159=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11548738 CV251637 NM_001256545.2(MEGF10):c.3215G>A (p.Arg1072Lys) variant EFO:0007621 bone mineral content measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31790847 11548774 CV257712 NM_002972.4(SBF1):c.3987G>A (p.Ala1329=) variant EFO:0007009 obsolete_skin pigmentation measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30895295 11548793 CV251201 NM_000094.4(COL7A1):c.2314+15G>A variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39537608 11548795 CV257574 NM_000754.4(COMT):c.186C>T (p.His62=) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 11548795 CV257574 NM_000754.4(COMT):c.186C>T (p.His62=) variant EFO:0021009 3-methoxytyrosine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 11548795 CV257574 NM_000754.4(COMT):c.186C>T (p.His62=) variant EFO:0021269 X-11849 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 11548840 CV253013 NM_014112.5(TRPS1):c.2700+29A>C variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36581621 11548872 CV249543 NM_001002294.3(FMO3):c.855C>T (p.Asn285=) variant EFO:0800054 S-methylcysteine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 11548879 CV252280 NM_001365276.2(TNXB):c.8791+35G>A variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11548879 CV252280 NM_001365276.2(TNXB):c.8791+35G>A variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11548879 CV252280 NM_001365276.2(TNXB):c.8791+35G>A variant EFO:0008179 interleukin 18 receptor accessory protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11548929 CV253916 NM_006204.4(PDE6C):c.808T>A (p.Ser270Thr) variant EFO:0004465 obsolete_fasting blood glucose measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39280063 11548931 CV254610 NM_000020.3(ACVRL1):c.314-35A>G variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11549020 CV249439 NM_003126.4(SPTA1):c.5077A>C (p.Lys1693Gln) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11549020 CV249439 NM_003126.4(SPTA1):c.5077A>C (p.Lys1693Gln) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39280063 11549038 CV249988 NM_174936.4(PCSK9):c.799+3A>G variant EFO:0009312 proprotein convertase subtilisin/kexin type 9 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34590679 11549168 CV257223 NM_016363.5(GP6):c.576A>G (p.Ser192=) variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11549168 CV257223 NM_016363.5(GP6):c.576A>G (p.Ser192=) variant EFO:0005036 obsolete_platelet measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 11549168 CV257223 NM_016363.5(GP6):c.576A>G (p.Ser192=) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30072576 11549207 CV253945 NM_016341.4(PLCE1):c.5780A>G (p.His1927Arg) variant EFO:0002916 esophageal carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:21642993 11549207 CV253945 NM_016341.4(PLCE1):c.5780A>G (p.His1927Arg) variant EFO:0005922 esophageal squamous cell carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25129146 11549214 CV251152 NM_024513.4(FYCO1):c.3419G>A (p.Arg1140Gln) variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11549214 CV251152 NM_024513.4(FYCO1):c.3419G>A (p.Arg1140Gln) variant EFO:0007621 bone mineral content measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31790847 11549285 CV254768 NM_018979.4(WNK1):c.5424G>T (p.Met1808Ile) variant EFO:0004343 waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30239722 11549334 CV250889 NM_000373.4(UMPS):c.88A>G (p.Ser30Gly) variant EFO:0800642 orotate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 11549350 CV252286 NM_001365276.2(TNXB):c.7797G>A (p.Leu2599=) variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11549419 CV254531 NM_001844.5(COL2A1):c.3991G>A (p.Val1331Ile) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11549426 CV252207 NM_182961.4(SYNE1):c.1463+24G>T variant EFO:MONDO:0004985 bipolar disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28115744 11549433 CV254369 NM_016156.6(MTMR2):c.1131C>T (p.Thr377=) variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11549458 CV251172 NM_015175.3(NBEAL2):c.1033-28C>T variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11549469 CV255202 NM_138477.4(CDAN1):c.2352+8C>T variant EFO:MONDO:0004985 bipolar disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31043756 11549485 CV257674 NM_001374504.1(TMPRSS6):c.1227C>T (p.Tyr409=) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11549485 CV257674 NM_001374504.1(TMPRSS6):c.1227C>T (p.Tyr409=) variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11549485 CV257674 NM_001374504.1(TMPRSS6):c.1227C>T (p.Tyr409=) variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11549485 CV257674 NM_001374504.1(TMPRSS6):c.1227C>T (p.Tyr409=) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11549485 CV257674 NM_001374504.1(TMPRSS6):c.1227C>T (p.Tyr409=) variant EFO:0004570 bilirubin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11549485 CV257674 NM_001374504.1(TMPRSS6):c.1227C>T (p.Tyr409=) variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11549485 CV257674 NM_001374504.1(TMPRSS6):c.1227C>T (p.Tyr409=) variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28957414 11549543 CV254051 NM_001378964.1(CDON):c.496+45C>T variant EFO:0008079 obsolete_cell adhesion molecule-related/down-regulated by oncogenes measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 11549568 CV256421 NM_199242.3(UNC13D):c.2709+48C>T variant EFO:0020729 serine/threonine-protein kinase PAK 6 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 11549584 CV250368 NM_003742.4(ABCB11):c.402C>T (p.Ile134=) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24058526 11549619 CV257345 NM_001174089.2(SLC4A11):c.591G>A (p.Ser197=) variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11549621 CV256880 NM_004646.4(NPHS1):c.294C>T (p.Ile98=) variant EFO:0004255 nephrotic syndrome IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32554042 11549634 CV251192 NM_000094.4(COL7A1):c.8305-20G>C variant EFO:0008298 thioredoxin domain-containing protein 12 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 11549648 CV255655 NM_001009944.3(PKD1):c.1850-4A>G variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11549757 CV256402 NM_000747.3(CHRNB1):c.1044+25C>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11549777 CV255247 NM_205850.3(SLC24A5):c.331A>G (p.Thr111Ala) variant EFO:0003949 eye color IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33692100 11549777 CV255247 NM_205850.3(SLC24A5):c.331A>G (p.Thr111Ala) variant EFO:0007009 obsolete_skin pigmentation measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31315583 11549777 CV255247 NM_205850.3(SLC24A5):c.331A>G (p.Thr111Ala) variant EFO:0007822 obsolete_hair colour measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34737426 11549777 CV255247 NM_205850.3(SLC24A5):c.331A>G (p.Thr111Ala) variant EFO:0009764 eye colour measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30895295 11549828 CV255635 NM_001009944.3(PKD1):c.3372C>T (p.Ala1124=) variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35710981 11549842 CV257226 NM_016363.5(GP6):c.484A>C (p.Arg162=) variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11549842 CV257226 NM_016363.5(GP6):c.484A>C (p.Arg162=) variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11549890 CV255237 NM_001363711.2(DUOX2):c.2033A>G (p.His678Arg) variant EFO:0004459 ferritin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33536631 11549890 CV255237 NM_001363711.2(DUOX2):c.2033A>G (p.His678Arg) variant EFO:0006332 obsolete_serum iron measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33536631 11549890 CV255237 NM_001363711.2(DUOX2):c.2033A>G (p.His678Arg) variant EFO:0006333 transferrin saturation measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33536631 11549890 CV255237 NM_001363711.2(DUOX2):c.2033A>G (p.His678Arg) variant EFO:0006334 total iron binding capacity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33536631 11549916 CV256704 NM_005570.4(LMAN1):c.1228A>T (p.Met410Leu) variant EFO:0010071 cardiac troponin I measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31014085 11549936 CV256451 NM_199242.3(UNC13D):c.154-19G>A variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11549936 CV256451 NM_199242.3(UNC13D):c.154-19G>A variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11549936 CV256451 NM_199242.3(UNC13D):c.154-19G>A variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11549944 CV253286 NM_001174147.2(LMX1B):c.326+7G>C variant EFO:0004190 open-angle glaucoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33627673 11549944 CV253286 NM_001174147.2(LMX1B):c.326+7G>C variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33045005 11549958 CV249399 NM_006118.4(HAX1):c.159T>C (p.Ser53=) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11549958 CV249399 NM_006118.4(HAX1):c.159T>C (p.Ser53=) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11550009 CV251648 NM_001999.4(FBN2):c.6637+39A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11550045 CV257479 NM_004928.3(CFAP410):c.172G>T (p.Val58Leu) variant EFO:MONDO:0004976 amyotrophic lateral sclerosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34873335 11550101 CV253999 NM_014956.5(CEP164):c.1935-5C>G variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11550101 CV253999 NM_014956.5(CEP164):c.1935-5C>G variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11550109 CV252947 NM_012431.3(SEMA3E):c.623G>C (p.Arg208Pro) variant EFO:0008279 semaphorin-3E measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 11550191 CV252252 NM_001365276.2(TNXB):c.11531-25T>C variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11550191 CV252252 NM_001365276.2(TNXB):c.11531-25T>C variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11550191 CV252252 NM_001365276.2(TNXB):c.11531-25T>C variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11550191 CV252252 NM_001365276.2(TNXB):c.11531-25T>C variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31761296 11550191 CV252252 NM_001365276.2(TNXB):c.11531-25T>C variant EFO:0005090 basophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11550204 CV254082 NM_181507.2(HPS5):c.2440+36C>T variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 11550224 CV254672 NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala) variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11550224 CV254672 NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala) variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11550224 CV254672 NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala) variant EFO:0801526 dihydrofolate reductase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11550224 CV254672 NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala) variant EFO:OBA:2041401 level of dihydrofolate reductase in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 11550253 CV257669 NM_001374504.1(TMPRSS6):c.2190C>T (p.Tyr730=) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11550253 CV257669 NM_001374504.1(TMPRSS6):c.2190C>T (p.Tyr730=) variant EFO:0004570 bilirubin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11550253 CV257669 NM_001374504.1(TMPRSS6):c.2190C>T (p.Tyr730=) variant EFO:0006332 obsolete_serum iron measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35501403 11550289 CV249733 NM_001377229.1(DISP1):c.307G>A (p.Glu103Lys) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11550301 CV255241 NM_001363711.2(DUOX2):c.413C>T (p.Pro138Leu) variant EFO:0005047 obsolete_erythrocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 11550311 CV249717 NM_000478.6(ALPL):c.793-31C>T variant EFO:0004253 nephrolithiasis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26272126 11550318 CV256456 NM_004870.4(MPDU1):c.507+44G>C variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35762941 11550380 CV252311 NM_001365276.2(TNXB):c.3764G>A (p.Arg1255His) variant EFO:0004784 self reported educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30038396 11550400 CV256779 NM_006563.5(KLF1):c.304T>C (p.Ser102Pro) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36581621 11550422 CV256309 NM_000789.4(ACE):c.2328G>A (p.Thr776=) variant EFO:0005653 serum metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24625756 11550422 CV256309 NM_000789.4(ACE):c.2328G>A (p.Thr776=) variant EFO:0021391 aspartylphenylalanine-to-X-14450--phenylalanylleucine ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24816252 11550422 CV256309 NM_000789.4(ACE):c.2328G>A (p.Thr776=) variant EFO:0800668 glycylphenylalanine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 11550422 CV256309 NM_000789.4(ACE):c.2328G>A (p.Thr776=) variant EFO:OBA:2050370 level of Gly-Trp in blood IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 11550481 CV253475 NM_019892.6(INPP5E):c.1280-26T>C variant EFO:1001927 cutaneous squamous cell carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38182794 11550489 CV254633 NM_002905.5(RDH5):c.423C>T (p.Ile141=) variant EFO:0004784 self reported educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27020472 11550489 CV254633 NM_002905.5(RDH5):c.423C>T (p.Ile141=) variant EFO:0005318 axial length measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36246171 11550489 CV254633 NM_002905.5(RDH5):c.423C>T (p.Ile141=) variant EFO:0005773 retinal detachment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11550489 CV254633 NM_002905.5(RDH5):c.423C>T (p.Ile141=) variant EFO:0010554 retinal vasculature measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34743558 11550489 CV254633 NM_002905.5(RDH5):c.423C>T (p.Ile141=) variant EFO:0803370 photoreceptor cell layer thickness measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36848389 11550489 CV254633 NM_002905.5(RDH5):c.423C>T (p.Ile141=) variant EFO:MONDO:0004892 refractive error IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32352494 11550495 CV253283 NM_004959.5(NR5A1):c.437G>C (p.Gly146Ala) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39048560 11550496 CV255104 NM_000153.4(GALC):c.196-43C>T variant EFO:0005090 basophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11550496 CV255104 NM_000153.4(GALC):c.196-43C>T variant EFO:0007992 basophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11550496 CV255104 NM_000153.4(GALC):c.196-43C>T variant EFO:0803548 neutrophil measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 11550529 CV253379 NM_139027.6(ADAMTS13):c.582C>T (p.Gly194=) variant EFO:0009269 ADAMTS13 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11550602 CV252929 NM_001395413.1(POR):c.1499C>T (p.Ala500Val) variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11550602 CV252929 NM_001395413.1(POR):c.1499C>T (p.Ala500Val) variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11550602 CV252929 NM_001395413.1(POR):c.1499C>T (p.Ala500Val) variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 11550602 CV252929 NM_001395413.1(POR):c.1499C>T (p.Ala500Val) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 11550602 CV252929 NM_001395413.1(POR):c.1499C>T (p.Ala500Val) variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 11550602 CV252929 NM_001395413.1(POR):c.1499C>T (p.Ala500Val) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11550602 CV252929 NM_001395413.1(POR):c.1499C>T (p.Ala500Val) variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39256582 11550602 CV252929 NM_001395413.1(POR):c.1499C>T (p.Ala500Val) variant EFO:0006781 coffee consumption measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31046077 11550602 CV252929 NM_001395413.1(POR):c.1499C>T (p.Ala500Val) variant EFO:0007778 urinary albumin to creatinine ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31511532 11550602 CV252929 NM_001395413.1(POR):c.1499C>T (p.Ala500Val) variant EFO:0007991 eosinophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11550602 CV252929 NM_001395413.1(POR):c.1499C>T (p.Ala500Val) variant EFO:0010093 bitter non-alcoholic beverage consumption measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31046077 11550602 CV252929 NM_001395413.1(POR):c.1499C>T (p.Ala500Val) variant EFO:0020007 X-21467 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 11550614 CV252314 NM_001365276.2(TNXB):c.3380A>G (p.Lys1127Arg) variant EFO:0020224 cAMP-specific 3',5'-cyclic phosphodiesterase 4D measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 11550614 CV252314 NM_001365276.2(TNXB):c.3380A>G (p.Lys1127Arg) variant EFO:OBA:2040335 level of T-cell surface protein tactile in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 11550614 CV252314 NM_001365276.2(TNXB):c.3380A>G (p.Lys1127Arg) variant EFO:OBA:2041506 level of ermin in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 11550614 CV252314 NM_001365276.2(TNXB):c.3380A>G (p.Lys1127Arg) variant EFO:OBA:2041681 level of guanylate-binding protein 2 in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 11550614 CV252314 NM_001365276.2(TNXB):c.3380A>G (p.Lys1127Arg) variant EFO:OBA:2042320 level of protein Mdm4 in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 11550614 CV252314 NM_001365276.2(TNXB):c.3380A>G (p.Lys1127Arg) variant EFO:OBA:2043378 level of histone deacetylase complex subunit SAP30 in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 11550614 CV252314 NM_001365276.2(TNXB):c.3380A>G (p.Lys1127Arg) variant EFO:OBA:2044265 level of splicing factor YJU2 in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 11550625 CV253658 NM_004612.4(TGFBR1):c.1255+24G>A variant EFO:0004847 age at onset IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29808027 11550625 CV253658 NM_004612.4(TGFBR1):c.1255+24G>A variant EFO:HP:0000545 Myopia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29808027 11550638 CV255231 NM_001363711.2(DUOX2):c.3200C>T (p.Ser1067Leu) variant EFO:0021223 X-11315 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 11550706 CV253115 NM_000037.4(ANK1):c.4506C>T (p.Arg1502=) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11550706 CV253115 NM_000037.4(ANK1):c.4506C>T (p.Arg1502=) variant EFO:0004570 bilirubin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11550706 CV253115 NM_000037.4(ANK1):c.4506C>T (p.Arg1502=) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 11550706 CV253115 NM_000037.4(ANK1):c.4506C>T (p.Arg1502=) variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11550711 CV257338 NM_014588.6(VSX1):c.18G>T (p.Ser6=) variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11550714 CV253056 NM_003235.5(TG):c.7408C>T (p.Leu2470=) variant EFO:0004748 obsolete_thyroid stimulating hormone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37872160 11550714 CV253056 NM_003235.5(TG):c.7408C>T (p.Leu2470=) variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11550723 CV252247 NM_001365276.2(TNXB):c.11921A>C (p.Asn3974Thr) variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11550764 CV250808 NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11550774 CV249520 NM_000130.5(F5):c.1238T>C (p.Met413Thr) variant EFO:0008087 obsolete_coagulation factor v measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28240269 11550805 CV249507 NM_000130.5(F5):c.2773A>G (p.Lys925Glu) variant EFO:0008062 calcium/calmodulin-dependent protein kinase type 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 11550829 CV255301 NM_182758.4(WDR72):c.917C>T (p.Pro306Leu) variant EFO:0010136 urinary pH measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30476138 11550833 CV251991 NM_001177693.2(ARHGEF28):c.1631C>T (p.Ser544Leu) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39280063 11550953 CV251213 NM_002292.4(LAMB2):c.2959G>A (p.Glu987Lys) variant EFO:0001645 coronary artery disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36474045 11550953 CV251213 NM_002292.4(LAMB2):c.2959G>A (p.Glu987Lys) variant EFO:0008475 mood instability measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29500382 11550953 CV251213 NM_002292.4(LAMB2):c.2959G>A (p.Glu987Lys) variant EFO:0011015 educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34743297 11550953 CV251213 NM_002292.4(LAMB2):c.2959G>A (p.Glu987Lys) variant EFO:MONDO:0004975 Alzheimer disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34743297 11550977 CV257151 NM_175875.5(SIX5):c.2077G>A (p.Val693Met) variant EFO:0001065 endometriosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35472084 11550977 CV257151 NM_175875.5(SIX5):c.2077G>A (p.Val693Met) variant EFO:MONDO:0004979 asthma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35472084 11551031 CV254057 NM_001254757.2(ST3GAL4):c.252C>T (p.Tyr84=) variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11551081 CV251981 NM_022132.5(MCCC2):c.1574+37C>G variant EFO:0004581 interleukin 18 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27989323 11551093 CV251203 NM_000094.4(COL7A1):c.1784C>T (p.Pro595Leu) variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11551093 CV251203 NM_000094.4(COL7A1):c.1784C>T (p.Pro595Leu) variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11551118 CV252326 NM_001365276.2(TNXB):c.904A>G (p.Thr302Ala) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35964923 11551118 CV252326 NM_001365276.2(TNXB):c.904A>G (p.Thr302Ala) variant EFO:0007869 wellbeing measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30643256 11551123 CV251987 NM_001177693.2(ARHGEF28):c.851C>A (p.Pro284Gln) variant EFO:0004238 hearing loss IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36788145 11551123 CV251987 NM_001177693.2(ARHGEF28):c.851C>A (p.Pro284Gln) variant EFO:0005782 age-related hearing impairment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34108613 11551123 CV251987 NM_001177693.2(ARHGEF28):c.851C>A (p.Pro284Gln) variant EFO:0009720 able to hear with hearing aids IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36788145 11551210 CV254236 NM_005609.4(PYGM):c.660+35G>A variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:21768215 11551234 CV255196 NM_138477.4(CDAN1):c.3474A>C (p.Leu1158=) variant EFO:0006959 gene methylation measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26183928 11551240 CV252232 NM_000500.9(CYP21A2):c.738+12A>G variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11551354 CV255836 NM_001126108.2(SLC12A3):c.1825+9C>A variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11551354 CV255836 NM_001126108.2(SLC12A3):c.1825+9C>A variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11551366 CV253278 NM_005592.4(MUSK):c.1927+50T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11551448 CV256312 NM_000789.4(ACE):c.3692-6G>A variant EFO:0021127 aspartylphenylalanine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 11551448 CV256312 NM_000789.4(ACE):c.3692-6G>A variant EFO:0021364 X-14189--leucylalanine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 11551448 CV256312 NM_000789.4(ACE):c.3692-6G>A variant EFO:0021366 X-14208--phenylalanylserine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 11551448 CV256312 NM_000789.4(ACE):c.3692-6G>A variant EFO:0800669 HWESASLLR measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 11551448 CV256312 NM_000789.4(ACE):c.3692-6G>A variant EFO:OBA:2050363 level of Isoleucyl-Threonine in blood IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 11551448 CV256312 NM_000789.4(ACE):c.3692-6G>A variant EFO:OBA:2050367 level of Ser-Leu in blood IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 11551448 CV256312 NM_000789.4(ACE):c.3692-6G>A variant EFO:OBA:2050406 level of Glu-Glu in blood IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 11551448 CV256312 NM_000789.4(ACE):c.3692-6G>A variant EFO:OBA:2050412 level of Thr-Phe in blood IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 11551487 CV255507 NM_001009944.3(PKD1):c.12630T>C (p.Pro4210=) variant EFO:0005409 obsolete_fat body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 11551510 CV257343 NM_001174089.2(SLC4A11):c.1283-11C>T variant EFO:0010067 corneal resistance factor IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35446358 11551545 CV251340 NM_005141.5(FGB):c.567C>T (p.Ser189=) variant EFO:0004507 D dimer measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33095540 11551615 CV253576 NM_004817.4(TJP2):c.2992-19G>A variant EFO:0004864 renal sinus adipose tissue measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:22044751 11551633 CV249581 NM_000433.4(NCF2):c.1167C>A (p.His389Gln) variant EFO:0000685 rheumatoid arthritis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30573655 11551633 CV249581 NM_000433.4(NCF2):c.1167C>A (p.His389Gln) variant EFO:0000717 systemic scleroderma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30573655 11551633 CV249581 NM_000433.4(NCF2):c.1167C>A (p.His389Gln) variant EFO:0000783 myositis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30573655 11551633 CV249581 NM_000433.4(NCF2):c.1167C>A (p.His389Gln) variant EFO:0001060 celiac disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31591516 11551633 CV249581 NM_000433.4(NCF2):c.1167C>A (p.His389Gln) variant EFO:0800709 X-12127 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 11551633 CV249581 NM_000433.4(NCF2):c.1167C>A (p.His389Gln) variant EFO:MONDO:0007915 systemic lupus erythematosus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30573655 11551699 CV255880 NM_016373.4(WWOX):c.535G>A (p.Ala179Thr) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11551729 CV251187 NM_015175.3(NBEAL2):c.6801+21A>C variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34321204 11551751 CV251197 NM_000094.4(COL7A1):c.3830C>T (p.Pro1277Leu) variant EFO:0011015 educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35361970 11551756 CV250307 NM_022168.4(IFIH1):c.2528A>G (p.His843Arg) variant EFO:MONDO:0021081 anti-NMDA receptor encephalitis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38579189 11551790 CV254014 NM_000190.4(HMBS):c.88-14G>A variant EFO:0004535 obsolete_serum albumin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34321204 11551790 CV254014 NM_000190.4(HMBS):c.88-14G>A variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11551865 CV249710 NM_001397.3(ECE1):c.1278+7C>T variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11551903 CV252424 NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11551903 CV252424 NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) variant EFO:0004617 cystatin C measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11551903 CV252424 NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11552005 CV254450 NM_024809.5(TCTN2):c.1612+12C>T variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11552012 CV257568 NM_001849.4(COL6A2):c.2462-2458C>T variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11552020 CV254993 NM_007374.3(SIX6):c.421C>A (p.His141Asn) variant EFO:0004190 open-angle glaucoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26752265 11552020 CV254993 NM_007374.3(SIX6):c.421C>A (p.His141Asn) variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31761296 11552020 CV254993 NM_007374.3(SIX6):c.421C>A (p.His141Asn) variant EFO:0004995 lean body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 11552020 CV254993 NM_007374.3(SIX6):c.421C>A (p.His141Asn) variant EFO:0009944 Antiglaucoma preparations and miotics use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11552078 CV254003 NM_014956.5(CEP164):c.2963C>G (p.Thr988Ser) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11552078 CV254003 NM_014956.5(CEP164):c.2963C>G (p.Thr988Ser) variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11552128 CV251154 NM_024513.4(FYCO1):c.3003C>A (p.Asn1001Lys) variant EFO:MONDO:0005178 osteoarthritis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37398645 11552128 CV251154 NM_024513.4(FYCO1):c.3003C>A (p.Asn1001Lys) variant EFO:MONDO:0100096 COVID-19 IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37398645 11552240 CV255050 NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys) variant EFO:0004620 vitamin B12 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23754956 11552259 CV249551 NM_000488.4(SERPINC1):c.981A>G (p.Val327=) variant EFO:0007869 wellbeing measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29292387 11552295 CV252291 NM_001365276.2(TNXB):c.7461C>T (p.Arg2487=) variant EFO:0004256 neuromyelitis optica IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29769526 11552295 CV252291 NM_001365276.2(TNXB):c.7461C>T (p.Arg2487=) variant EFO:0007006 depressive symptom measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30643256 11552295 CV252291 NM_001365276.2(TNXB):c.7461C>T (p.Arg2487=) variant EFO:0007660 neuroticism measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30643256 11552295 CV252291 NM_001365276.2(TNXB):c.7461C>T (p.Arg2487=) variant EFO:0007869 wellbeing measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30643256 11552295 CV252291 NM_001365276.2(TNXB):c.7461C>T (p.Arg2487=) variant EFO:0009584 AQP4-IgG-positive neuromyelitis optica IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29769526 11552295 CV252291 NM_001365276.2(TNXB):c.7461C>T (p.Arg2487=) variant EFO:MONDO:0007915 systemic lupus erythematosus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26502338 11552359 CV249499 NM_000130.5(F5):c.6194-20C>A variant EFO:0802503 E3 ubiquitin-protein ligase DTX1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11552388 CV250313 NM_012293.3(PXDN):c.3953-14T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11552393 CV259119 NM_006440.5(TXNRD2):c.1206G>A (p.Pro402=) variant EFO:0004190 open-angle glaucoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33627673 11552395 CV253526 NM_007126.5(VCP):c.1695+8A>G variant EFO:0005091 monocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11552404 CV253938 NM_016341.4(PLCE1):c.4724G>C (p.Arg1575Pro) variant EFO:0004344 birth weight IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31043758 11552404 CV253938 NM_016341.4(PLCE1):c.4724G>C (p.Arg1575Pro) variant EFO:0004346 neuroimaging measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38811844 11552404 CV253938 NM_016341.4(PLCE1):c.4724G>C (p.Arg1575Pro) variant EFO:0004838 calcium measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33887147 11552404 CV253938 NM_016341.4(PLCE1):c.4724G>C (p.Arg1575Pro) variant EFO:0005091 monocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11552404 CV253938 NM_016341.4(PLCE1):c.4724G>C (p.Arg1575Pro) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35762941 11552404 CV253938 NM_016341.4(PLCE1):c.4724G>C (p.Arg1575Pro) variant EFO:0005939 parental genotype effect measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31043758 11552404 CV253938 NM_016341.4(PLCE1):c.4724G>C (p.Arg1575Pro) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35762941 11552404 CV253938 NM_016341.4(PLCE1):c.4724G>C (p.Arg1575Pro) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35762941 11552404 CV253938 NM_016341.4(PLCE1):c.4724G>C (p.Arg1575Pro) variant EFO:0007988 obsolete_myeloid white cell count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11552404 CV253938 NM_016341.4(PLCE1):c.4724G>C (p.Arg1575Pro) variant EFO:MONDO:0005041 glaucoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31959993 11552404 CV253938 NM_016341.4(PLCE1):c.4724G>C (p.Arg1575Pro) variant EFO:MONDO:0005129 cataract IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34127677 11552541 CV254147 NM_024426.6(WT1):c.213G>T (p.Pro71=) variant EFO:HP:0001873 Thrombocytopenia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38064665 11559739 CV260144 NM_002386.4(MC1R):c.456C>A (p.Tyr152Ter) variant EFO:0003924 hair color IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30531825 11559739 CV260144 NM_002386.4(MC1R):c.456C>A (p.Tyr152Ter) variant EFO:0007822 obsolete_hair colour measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34737426 11560001 CV65592 NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter) variant EFO:0004631 vitamin D measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32059762 11560086 CV65594 NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) variant EFO:0004631 vitamin D measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32059762 11560086 CV65594 NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) variant EFO:HP:0000964 Eczematoid dermatitis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34785669 11577878 CV269992 NM_005529.7(HSPG2):c.3897G>A (p.Val1299=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28552196 11577883 CV282254 NM_006343.3(MERTK):c.2080-11C>A variant EFO:0011015 educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35361970 11577922 CV266330 NM_004994.3(MMP9):c.1721G>C (p.Arg574Pro) variant EFO:0020561 matrix metalloproteinase-9 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11577923 CV281882 NM_002299.4(LCT):c.2763G>A (p.Ala921=) variant EFO:0005091 monocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11578019 CV265333 NM_000163.5(GHR):c.1735C>A (p.Pro579Thr) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11578149 CV276675 NM_003126.4(SPTA1):c.6896G>T (p.Cys2299Phe) variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11578149 CV276675 NM_003126.4(SPTA1):c.6896G>T (p.Cys2299Phe) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11578149 CV276675 NM_003126.4(SPTA1):c.6896G>T (p.Cys2299Phe) variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11578149 CV276675 NM_003126.4(SPTA1):c.6896G>T (p.Cys2299Phe) variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11578415 CV282947 NM_002303.6(LEPR):c.3057G>A (p.Pro1019=) variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30388399 11578445 CV279359 NM_000186.4(CFH):c.1419G>A (p.Ala473=) variant EFO:0004713 FEV/FVC ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 11578445 CV279359 NM_000186.4(CFH):c.1419G>A (p.Ala473=) variant EFO:0004808 L lactate dehydrogenase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26838040 11578445 CV279359 NM_000186.4(CFH):c.1419G>A (p.Ala473=) variant EFO:0008097 complement factor H measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11578445 CV279359 NM_000186.4(CFH):c.1419G>A (p.Ala473=) variant EFO:GO:0097366 response to bronchodilator IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 11578556 CV270894 NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln) variant EFO:0009806 total hip arthroplasty IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34450027 11578556 CV270894 NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln) variant EFO:1000786 osteoarthritis, hip IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376028 11578556 CV270894 NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln) variant EFO:MONDO:0005178 osteoarthritis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34450027 11578615 CV279683 NM_020247.5(COQ8A):c.1660-9T>C variant EFO:0004462 PR interval IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32439900 11578722 CV279314 NM_005529.7(HSPG2):c.8848G>A (p.Gly2950Arg) variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11579030 CV269851 NM_005529.7(HSPG2):c.6402G>A (p.Val2134=) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11579082 CV272251 NM_015311.3(OBSL1):c.5300G>A (p.Arg1767Gln) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 11579125 CV284288 NM_015040.4(PIKFYVE):c.1849A>G (p.Met617Val) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36581621 11579151 CV278205 NM_000186.4(CFH):c.1204C>T (p.His402Tyr) variant EFO:0020174 baculoviral IAP repeat-containing protein 5 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11579151 CV278205 NM_000186.4(CFH):c.1204C>T (p.His402Tyr) variant EFO:0801379 amyloid beta A4 precursor protein-binding family B member 2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11579151 CV278205 NM_000186.4(CFH):c.1204C>T (p.His402Tyr) variant EFO:0801796 membrane-associated progesterone receptor component 2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11579414 CV281859 NM_002299.4(LCT):c.4606C>T (p.Leu1536=) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11579424 CV268307 NM_022437.3(ABCG8):c.453G>A (p.Val151=) variant EFO:0005680 omega-6 polyunsaturated fatty acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11579424 CV268307 NM_022437.3(ABCG8):c.453G>A (p.Val151=) variant EFO:0006807 linoleic acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11579424 CV268307 NM_022437.3(ABCG8):c.453G>A (p.Val151=) variant EFO:0008317 obsolete_vldl cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11579424 CV268307 NM_022437.3(ABCG8):c.453G>A (p.Val151=) variant EFO:0008589 esterified cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11579424 CV268307 NM_022437.3(ABCG8):c.453G>A (p.Val151=) variant EFO:0010116 choline measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11579424 CV268307 NM_022437.3(ABCG8):c.453G>A (p.Val151=) variant EFO:0010733 polyunsaturated fatty acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11579424 CV268307 NM_022437.3(ABCG8):c.453G>A (p.Val151=) variant EFO:0022156 total lipids in very small VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11579424 CV268307 NM_022437.3(ABCG8):c.453G>A (p.Val151=) variant EFO:0022182 cholesterol esters in medium VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11579424 CV268307 NM_022437.3(ABCG8):c.453G>A (p.Val151=) variant EFO:0022231 cholesterol in very small VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11579500 CV280709 NM_005529.7(HSPG2):c.3557G>A (p.Arg1186Gln) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11579501 CV227498 NM_022051.3(EGLN1):c.12C>G (p.Asp4Glu) variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11579501 CV227498 NM_022051.3(EGLN1):c.12C>G (p.Asp4Glu) variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11579501 CV227498 NM_022051.3(EGLN1):c.12C>G (p.Asp4Glu) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11579501 CV227498 NM_022051.3(EGLN1):c.12C>G (p.Asp4Glu) variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11579866 CV278184 NM_000186.4(CFH):c.2016A>G (p.Gln672=) variant EFO:0008543 c3d:C3 ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29398083 11580350 CV278837 NM_031935.3(HMCN1):c.3166A>G (p.Thr1056Ala) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11580782 CV283126 NM_002633.3(PGM1):c.661C>T (p.Arg221Cys) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11580782 CV283126 NM_002633.3(PGM1):c.661C>T (p.Arg221Cys) variant EFO:0021859 phosphoglucomutase-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11580940 CV271025 NM_016180.5(SLC45A2):c.834C>G (p.Tyr278Ter) variant EFO:0003924 hair color IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30531825 11581249 CV278798 NM_005562.3(LAMC2):c.331G>C (p.Ala111Pro) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32778093 11581358 CV280975 NM_000029.4(AGT):c.620C>T (p.Thr207Met) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11581627 CV276646 NM_002529.4(NTRK1):c.2047-11G>A variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38064665 11581790 CV284490 NM_032977.4(CASP10):c.177A>G (p.Ser59=) variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11582485 CV296934 NM_176824.3(BBS7):c.*1286G>A variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11582582 CV299032 NM_006208.3(ENPP1):c.2661A>G (p.Ala887=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11582613 CV303994 NM_000163.5(GHR):c.*300G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11582624 CV294790 NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11582624 CV294790 NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11582624 CV294790 NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser) variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11582624 CV294790 NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11582678 CV293437 NM_001963.6(EGF):c.2124G>A (p.Met708Ile) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39280063 11582682 CV301396 NM_000176.3(NR3C1):c.*3833A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11582814 CV276364 NM_138959.3(VANGL1):c.*1277C>T variant EFO:0008377 mosquito bite reaction itch intensity measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28199695 11582814 CV276364 NM_138959.3(VANGL1):c.*1277C>T variant EFO:0008378 mosquito bite reaction size measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28199695 11582887 CV294754 NM_020041.3(SLC2A9):c.844G>A (p.Val282Ile) variant EFO:0004274 gout IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33832965 11582887 CV294754 NM_020041.3(SLC2A9):c.844G>A (p.Val282Ile) variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:18834626 11583023 CV289730 NM_005633.4(SOS1):c.*328A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11583110 CV304071 NM_002203.4(ITGA2):c.759C>T (p.Phe253=) variant EFO:0007984 platelet component distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11583127 CV297990 NM_207352.4(CYP4V2):c.*2399C>T variant EFO:0008260 plasma kallikrein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 11583271 CV286824 NM_001039348.3(EFEMP1):c.*1004C>G variant EFO:0004710 pelvic organ prolapse IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39349682 11583271 CV286824 NM_001039348.3(EFEMP1):c.*1004C>G variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11583271 CV286824 NM_001039348.3(EFEMP1):c.*1004C>G variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11583271 CV286824 NM_001039348.3(EFEMP1):c.*1004C>G variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11583271 CV286824 NM_001039348.3(EFEMP1):c.*1004C>G variant EFO:0009959 diverticular disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30177863 11583271 CV286824 NM_001039348.3(EFEMP1):c.*1004C>G variant EFO:HP:0000023 Inguinal hernia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34382107 11583432 CV302537 NM_080680.3(COL11A2):c.-200G>A variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11583432 CV302537 NM_080680.3(COL11A2):c.-200G>A variant EFO:0801490 collagen alpha-2(XI) chain measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11583447 CV301367 NM_000426.4(LAMA2):c.-99A>G variant EFO:0009682 pregnancy disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38714721 11583552 CV276862 NM_006623.3(PHGDH):c.-140A>G variant EFO:0009767 glycine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30837465 11583552 CV276862 NM_006623.3(PHGDH):c.-140A>G variant EFO:0009774 serine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 11583612 CV280880 NM_057176.3(BSND):c.-117T>C variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11583612 CV280880 NM_057176.3(BSND):c.-117T>C variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11583673 CV302839 NM_000337.6(SGCD):c.*5114C>T variant EFO:0011013 vaginal microbiome measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34282934 11583756 CV293285 NM_001059.3(TACR3):c.-103T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11583814 CV297610 NM_001199397.3(NEK1):c.607-3T>C variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 11584030 CV293516 NM_000460.4(THPO):c.*482A>T variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11584078 CV299116 NM_004100.5(EYA4):c.*23C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11584241 CV297359 NM_002185.5(IL7R):c.*917G>A variant EFO:0803546 lymphocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 11584270 CV302495 NM_000112.4(SLC26A2):c.*5338T>C variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11584445 CV282584 NM_014795.4(ZEB2):c.*1965A>G variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11584445 CV282584 NM_014795.4(ZEB2):c.*1965A>G variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11584445 CV282584 NM_014795.4(ZEB2):c.*1965A>G variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11584445 CV282584 NM_014795.4(ZEB2):c.*1965A>G variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11584467 CV296235 NM_001203.3(BMPR1B):c.*141C>T variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 11584467 CV296235 NM_001203.3(BMPR1B):c.*141C>T variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 11584513 CV285386 NM_000541.5(SAG):c.*89C>T variant EFO:0004570 bilirubin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11584612 CV287722 NM_001201543.2(FAM161A):c.321A>G (p.Ile107Met) variant EFO:OBA:2045156 level of Phosphatidylinositol (18:0_18:2) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36193934 11584687 CV284912 NM_005006.7(NDUFS1):c.*336G>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11584726 CV287159 NM_001204.7(BMPR2):c.*806C>T variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 11584767 CV291160 NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg) variant EFO:0802612 hyaluronidase-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11584783 CV294771 NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 11584971 CV303354 NM_022455.4(NSD1):c.*1116G>A variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11585024 CV288359 NM_000463.3(UGT1A1):c.*339G>C variant EFO:0004570 bilirubin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11585180 CV294052 NM_001106.4(ACVR2B):c.*911C>T variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35710981 11585237 CV300536 NM_004385.5(VCAN):c.1045A>G (p.Lys349Glu) variant EFO:0004143 carpal tunnel syndrome IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35332129 11585237 CV300536 NM_004385.5(VCAN):c.1045A>G (p.Lys349Glu) variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31761296 11585237 CV300536 NM_004385.5(VCAN):c.1045A>G (p.Lys349Glu) variant EFO:0004995 lean body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 11585297 CV279322 NM_003238.6(TGFB2):c.*2431C>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35831902 11585441 CV289980 NM_001039348.3(EFEMP1):c.-67G>A variant EFO:0000537 hypertension IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33293549 11585441 CV289980 NM_001039348.3(EFEMP1):c.-67G>A variant EFO:0005035 hippocampal volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37337106 11585441 CV289980 NM_001039348.3(EFEMP1):c.-67G>A variant EFO:0005665 white matter hyperintensity measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33293549 11585441 CV289980 NM_001039348.3(EFEMP1):c.-67G>A variant EFO:HP:0000023 Inguinal hernia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34382107 11585503 CV290368 NM_016006.6(ABHD5):c.12G>A (p.Glu4=) variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11585503 CV290368 NM_016006.6(ABHD5):c.12G>A (p.Glu4=) variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11585558 CV296563 NM_005908.4(MANBA):c.*505G>A variant EFO:1001486 primary biliary cirrhosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26394269 11585675 CV300534 NM_004385.5(VCAN):c.1043-10A>G variant EFO:0004341 body fat distribution IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30664634 11585675 CV300534 NM_004385.5(VCAN):c.1043-10A>G variant EFO:0004464 obsolete_brain measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34910505 11585675 CV300534 NM_004385.5(VCAN):c.1043-10A>G variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 11585675 CV300534 NM_004385.5(VCAN):c.1043-10A>G variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 11585675 CV300534 NM_004385.5(VCAN):c.1043-10A>G variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31761296 11585912 CV288752 NM_000551.4(VHL):c.*2600T>A variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11586007 CV287594 NM_001039348.3(EFEMP1):c.1160G>A (p.Arg387Gln) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35831902 11586055 CV301629 NM_000416.3(IFNGR1):c.85+10T>C variant EFO:HP:0000155 Oral ulcer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30837455 11586056 CV277191 NM_000130.5(F5):c.*873C>T variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11586219 CV277422 NM_000130.5(F5):c.*1820A>C variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11586219 CV277422 NM_000130.5(F5):c.*1820A>C variant EFO:0801438 cadherin-7 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11586219 CV277422 NM_000130.5(F5):c.*1820A>C variant EFO:0802114 T-cell surface glycoprotein CD3 epsilon chain measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11586219 CV277422 NM_000130.5(F5):c.*1820A>C variant EFO:0802137 torsin-1A-interacting protein 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11586238 CV292191 NM_176824.3(BBS7):c.-133C>G variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11586238 CV292191 NM_176824.3(BBS7):c.-133C>G variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11586770 CV275918 NM_001365951.3(KIF1B):c.*1133C>T variant EFO:0005036 obsolete_platelet measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 11586816 CV279576 NM_002296.4(LBR):c.*330T>G variant EFO:0005193 serum IgG glycosylation measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23382691 11586870 CV280534 NM_003238.6(TGFB2):c.*39G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11587238 CV297789 NM_024577.4(SH3TC2):c.*17903A>G variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11587238 CV297789 NM_024577.4(SH3TC2):c.*17903A>G variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11587238 CV297789 NM_024577.4(SH3TC2):c.*17903A>G variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11587262 CV279328 NM_003238.6(TGFB2):c.*2839G>A variant EFO:0004713 FEV/FVC ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 11587262 CV279328 NM_003238.6(TGFB2):c.*2839G>A variant EFO:GO:0097366 response to bronchodilator IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 11587413 CV290586 NM_020208.4(SLC6A20):c.-102C>A variant EFO:MONDO:0100096 COVID-19 IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35224516 11587473 CV292349 NM_000373.4(UMPS):c.*2614G>A variant EFO:0800642 orotate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 11587501 CV289675 NM_000460.4(THPO):c.*35G>A variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:20139978 11587501 CV289675 NM_000460.4(THPO):c.*35G>A variant EFO:0007985 platelet crit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11587944 CV295333 NM_014402.5(UQCRQ):c.*678G>A variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11587944 CV295333 NM_014402.5(UQCRQ):c.*678G>A variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 11587944 CV295333 NM_014402.5(UQCRQ):c.*678G>A variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11588004 CV303417 NM_001395413.1(POR):c.*306G>A variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11588004 CV303417 NM_001395413.1(POR):c.*306G>A variant EFO:0004330 coffee consumption IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25288136 11588004 CV303417 NM_001395413.1(POR):c.*306G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11588004 CV303417 NM_001395413.1(POR):c.*306G>A variant EFO:0006782 cups of coffee per day measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31837886 11588004 CV303417 NM_001395413.1(POR):c.*306G>A variant EFO:0007796 parental longevity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31484785 11588004 CV303417 NM_001395413.1(POR):c.*306G>A variant EFO:0010089 bitter beverage consumption measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31046077 11588096 CV291878 NM_000094.4(COL7A1):c.*65T>C variant EFO:0004535 obsolete_serum albumin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11588096 CV291878 NM_000094.4(COL7A1):c.*65T>C variant EFO:0801922 procollagen galactosyltransferase 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11588163 CV283928 NM_003466.4(PAX8):c.*2146A>G variant EFO:1001958 high grade ovarian serous adenocarcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38723632 11588207 CV324926 NM_031433.4(MFRP):c.-88C>T variant EFO:0004274 gout IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39406924 11588332 CV289894 NM_133259.4(LRPPRC):c.*556A>T variant EFO:0004318 smoking behavior IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30643258 11588405 CV303375 NM_014244.5(ADAMTS2):c.*1486C>A variant EFO:0007006 depressive symptom measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27723809 11588405 CV303375 NM_014244.5(ADAMTS2):c.*1486C>A variant EFO:0007859 response to interferon IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27723809 11588480 CV302501 NM_148919.4(PSMB8):c.145C>A (p.Gln49Lys) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11588487 CV300084 NM_020041.3(SLC2A9):c.899G>A (p.Arg300His) variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11588550 CV293510 NM_005787.6(ALG3):c.319A>G (p.Ile107Val) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11588563 CV302744 NM_002187.3(IL12B):c.892G>T (p.Val298Phe) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11588563 CV302744 NM_002187.3(IL12B):c.892G>T (p.Val298Phe) variant EFO:0020501 interleukin-23 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11588702 CV302139 NM_003730.6(RNASET2):c.706C>T (p.Arg236Trp) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11588812 CV301401 NM_000426.4(LAMA2):c.*118T>C variant EFO:0004464 obsolete_brain measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34910505 11588812 CV301401 NM_000426.4(LAMA2):c.*118T>C variant EFO:0004840 cortical thickness IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34910505 11588921 CV301798 NM_000230.3(LEP):c.280G>A (p.Val94Met) variant EFO:0005000 leptin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32917775 11588921 CV301798 NM_000230.3(LEP):c.280G>A (p.Val94Met) variant EFO:0007793 BMI-adjusted leptin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32917775 11589089 CV301621 NM_054027.6(ANKH):c.560G>A (p.Arg187Gln) variant EFO:0000400 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34737426 11589089 CV301621 NM_054027.6(ANKH):c.560G>A (p.Arg187Gln) variant EFO:0004465 obsolete_fasting blood glucose measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39280063 11589089 CV301621 NM_054027.6(ANKH):c.560G>A (p.Arg187Gln) variant EFO:0004468 glucose measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11589089 CV301621 NM_054027.6(ANKH):c.560G>A (p.Arg187Gln) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11589089 CV301621 NM_054027.6(ANKH):c.560G>A (p.Arg187Gln) variant EFO:0007629 hemoglobin A1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11589089 CV301621 NM_054027.6(ANKH):c.560G>A (p.Arg187Gln) variant EFO:0010972 blood phosphate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11589124 CV293057 NM_000128.4(F11):c.1016G>T (p.Cys339Phe) variant EFO:OBA:2041532 level of coagulation factor XI in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 11589133 CV291390 NM_020208.4(SLC6A20):c.*2244G>A variant EFO:MONDO:0005178 osteoarthritis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37398645 11589133 CV291390 NM_020208.4(SLC6A20):c.*2244G>A variant EFO:MONDO:0100096 COVID-19 IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37398645 11589158 CV281902 NM_004895.4(NLRP3):c.*396T>A variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11589254 CV302482 NM_006929.5(SKIC2):c.3201T>C (p.Tyr1067=) variant EFO:0004995 lean body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 11589254 CV302482 NM_006929.5(SKIC2):c.3201T>C (p.Tyr1067=) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11589254 CV302482 NM_006929.5(SKIC2):c.3201T>C (p.Tyr1067=) variant EFO:0006340 mean arterial pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11589509 CV300549 NM_001182.4(ALDH7A1):c.-60G>A variant EFO:0800066 6-oxopiperidine-2-carboxylate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11589550 CV301463 NM_006208.3(ENPP1):c.*1157C>T variant EFO:0010972 blood phosphate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11589755 CV300116 NM_018965.4(TREM2):c.287C>A (p.Thr96Lys) variant EFO:0009268 family history of Alzheimer’s disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36543923 11589755 CV300116 NM_018965.4(TREM2):c.287C>A (p.Thr96Lys) variant EFO:MONDO:0001627 dementia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36543923 11589755 CV300116 NM_018965.4(TREM2):c.287C>A (p.Thr96Lys) variant EFO:MONDO:0004975 Alzheimer disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36543923 11590048 CV283898 NM_003690.5(PRKRA):c.173A>G (p.Asp58Gly) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32929287 11590066 CV293874 NM_000901.5(NR3C2):c.2312G>A (p.Arg771His) variant EFO:0000537 hypertension IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 11590066 CV293874 NM_000901.5(NR3C2):c.2312G>A (p.Arg771His) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 11590066 CV293874 NM_000901.5(NR3C2):c.2312G>A (p.Arg771His) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 11590591 CV280262 NM_015627.3(LDLRAP1):c.*1755C>T variant EFO:0005036 obsolete_platelet measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 11590766 CV280294 NM_014053.4(FLVCR1):c.*1826C>T variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11590801 CV289262 NM_000373.4(UMPS):c.*3990A>T variant EFO:0010516 orotic acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35995766 11591077 CV299451 NM_000477.7(ALB):c.323A>G (p.Tyr108Cys) variant EFO:0004838 calcium measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11591215 CV300168 NM_020041.3(SLC2A9):c.375G>A (p.Thr125=) variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 11591467 CV278914 NM_000478.6(ALPL):c.*233A>C variant EFO:0005116 urinary metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31959995 11591467 CV278914 NM_000478.6(ALPL):c.*233A>C variant EFO:0800600 phosphoethanolamine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 11591473 CV285394 NM_004369.4(COL6A3):c.*665G>T variant EFO:0802420 collagen alpha-1(XXVIII) chain measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11591474 CV301406 NM_000176.3(NR3C1):c.*3298G>T variant EFO:0005271 obsolete_sleep duration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27126917 11591476 CV289477 NM_000379.4(XDH):c.627G>A (p.Glu209=) variant EFO:0005665 white matter hyperintensity measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32517579 11591634 CV281418 NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11591634 CV281418 NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys) variant EFO:0009932 HMG CoA reductase inhibitor use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11591685 CV288210 NM_152383.5(DIS3L2):c.1170C>T (p.Leu390=) variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11591685 CV288210 NM_152383.5(DIS3L2):c.1170C>T (p.Leu390=) variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11591848 CV284926 NM_005006.7(NDUFS1):c.-47C>G variant EFO:0011015 educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35361970 11591869 CV303429 NM_003052.5(SLC34A1):c.774T>C (p.His258=) variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31015462 11591869 CV303429 NM_003052.5(SLC34A1):c.774T>C (p.His258=) variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39256582 11591986 CV289259 NM_024996.7(GFM1):c.643G>A (p.Val215Ile) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 11592015 CV290778 NM_015175.3(NBEAL2):c.123C>G (p.Ser41=) variant EFO:0004713 FEV/FVC ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 11592015 CV290778 NM_015175.3(NBEAL2):c.123C>G (p.Ser41=) variant EFO:GO:0097366 response to bronchodilator IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 11592248 CV279777 NM_003465.2(CHIT1):c.-81G>A variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11592770 CV280354 NM_000478.6(ALPL):c.*388C>T variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:20139978 11592798 CV298408 NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29273807 11592798 CV298408 NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) variant EFO:0004465 obsolete_fasting blood glucose measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25625282 11592798 CV298408 NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 11592798 CV298408 NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) variant EFO:0801830 neuroendocrine convertase 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11592798 CV298408 NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) variant EFO:OBA:2042805 level of neuroendocrine convertase 1 in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 11592875 CV281896 NM_005263.5(GFI1):c.*1175G>A variant EFO:0000685 rheumatoid arthritis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333501 11592875 CV281896 NM_005263.5(GFI1):c.*1175G>A variant EFO:0007791 rheumatoid factor seropositivity measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333501 11592875 CV281896 NM_005263.5(GFI1):c.*1175G>A variant EFO:0007837 anti-citrullinated protein antibody seropositivity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333501 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25673413 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0004623 obsolete_fibrinogen measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26561523 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0004799 cholelithiasis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0004838 calcium measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0005116 urinary metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26352407 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27588450 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0007787 plasma betaine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26822151 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0007984 platelet component distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0007985 platelet crit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0007991 eosinophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0007996 eosinophil percentage of granulocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0009767 glycine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30837465 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0009768 glutamine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0009774 serine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33414548 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0010472 creatine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0800016 guanidinosuccinate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0800087 2-methylserine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0800207 propionylglycine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0800233 hexanoylglycine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0800759 X-16570 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0800771 X-17325 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 11592915 CV287441 NM_001875.5(CPS1):c.*346T>C variant EFO:0800926 X-25420 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11592930 CV295786 NM_052859.4(RFT1):c.*490T>A variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32541925 11592936 CV292601 NM_001063.4(TF):c.739C>T (p.Leu247=) variant EFO:0004461 iron biomarker measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25352340 11592936 CV292601 NM_001063.4(TF):c.739C>T (p.Leu247=) variant EFO:0004568 obsolete_serum non-albumin protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11592936 CV292601 NM_001063.4(TF):c.739C>T (p.Leu247=) variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11592936 CV292601 NM_001063.4(TF):c.739C>T (p.Leu247=) variant EFO:0006333 transferrin saturation measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25352340 11592936 CV292601 NM_001063.4(TF):c.739C>T (p.Leu247=) variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 11592999 CV298992 NM_022455.4(NSD1):c.*4175G>A variant EFO:0004343 waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30239722 11592999 CV298992 NM_022455.4(NSD1):c.*4175G>A variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26426971 11592999 CV298992 NM_022455.4(NSD1):c.*4175G>A variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28448500 11592999 CV298992 NM_022455.4(NSD1):c.*4175G>A variant EFO:0008007 age at assessment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26426971 11592999 CV298992 NM_022455.4(NSD1):c.*4175G>A variant EFO:0008343 sex interaction measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26426971 11593082 CV279332 NM_003238.6(TGFB2):c.*3196C>T variant EFO:0004713 FEV/FVC ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 11593082 CV279332 NM_003238.6(TGFB2):c.*3196C>T variant EFO:GO:0097366 response to bronchodilator IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 11593110 CV287979 NM_000551.4(VHL):c.*823G>A variant EFO:0000349 clear cell renal carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38671320 11593110 CV287979 NM_000551.4(VHL):c.*823G>A variant EFO:0002890 renal carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38671320 11593187 CV281649 NM_003466.4(PAX8):c.*2478C>T variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11593204 CV302651 NM_001288705.3(CSF1R):c.95T>G (p.Val32Gly) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11593422 CV288345 NM_000541.5(SAG):c.201C>T (p.Cys67=) variant EFO:0004570 bilirubin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11593581 CV299847 NM_006929.5(SKIC2):c.2659G>A (p.Asp887Asn) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11593581 CV299847 NM_006929.5(SKIC2):c.2659G>A (p.Asp887Asn) variant EFO:MONDO:0005277 migraine disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34294844 11593585 CV277832 NM_001122764.3(PPOX):c.-151G>T variant EFO:0004568 obsolete_serum non-albumin protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11593585 CV277832 NM_001122764.3(PPOX):c.-151G>T variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11593679 CV284637 NM_001372051.1(CASP8):c.*175C>T variant EFO:0000685 rheumatoid arthritis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333501 11593679 CV284637 NM_001372051.1(CASP8):c.*175C>T variant EFO:0007791 rheumatoid factor seropositivity measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333501 11593679 CV284637 NM_001372051.1(CASP8):c.*175C>T variant EFO:0007837 anti-citrullinated protein antibody seropositivity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333501 11593846 CV276422 NM_152263.4(TPM3):c.*4968A>G variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11593846 CV276422 NM_152263.4(TPM3):c.*4968A>G variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333282 11593846 CV276422 NM_152263.4(TPM3):c.*4968A>G variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11593846 CV276422 NM_152263.4(TPM3):c.*4968A>G variant EFO:0010736 obsolete_cortical surface area measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34910505 11593861 CV281141 NM_022051.2(EGLN1):c.-420C>G variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11593861 CV281141 NM_022051.2(EGLN1):c.-420C>G variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11593861 CV281141 NM_022051.2(EGLN1):c.-420C>G variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32327693 11593861 CV281141 NM_022051.2(EGLN1):c.-420C>G variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11593882 CV301597 NM_000176.3(NR3C1):c.*3550G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11594051 CV289632 NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) variant EFO:MONDO:0008315 prostate cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38052806 11594097 CV295653 NM_002488.4(NDUFA2):c.-48A>G variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11594097 CV295653 NM_002488.4(NDUFA2):c.-48A>G variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11594228 CV289245 NM_001011.4(RPS7):c.508-12C>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11594232 CV279099 NM_003238.6(TGFB2):c.*747A>C variant EFO:0004341 body fat distribution IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30664634 11594261 CV291110 NM_000821.7(GGCX):c.974G>A (p.Arg325Gln) variant EFO:0001663 prostate carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11594261 CV291110 NM_000821.7(GGCX):c.974G>A (p.Arg325Gln) variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11594261 CV291110 NM_000821.7(GGCX):c.974G>A (p.Arg325Gln) variant EFO:0803539 basophil measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 11594316 CV289183 NM_006488.3(KHK):c.145G>A (p.Val49Ile) variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35995766 11594316 CV289183 NM_006488.3(KHK):c.145G>A (p.Val49Ile) variant EFO:0008579 risk-taking behaviour IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30181555 11594412 CV285595 NM_003590.5(CUL3):c.*1774G>T variant EFO:0004784 self reported educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30038396 11594451 CV282206 NM_000310.4(PPT1):c.*1275G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11594689 CV293022 NM_207352.4(CYP4V2):c.*1236A>T variant EFO:0800371 octadecanedioylcarnitine (C18-DC) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11594833 CV293194 NM_000097.7(CPOX):c.880G>A (p.Val294Ile) variant EFO:0008315 obsolete_vascular endothelial growth factor receptor 3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 11594881 CV293462 NM_001963.6(EGF):c.*1265T>A variant EFO:0007985 platelet crit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11594886 CV299435 NM_000477.7(ALB):c.531A>T (p.Glu177Asp) variant EFO:0004535 obsolete_serum albumin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11595086 CV299852 NM_006929.5(SKIC2):c.3212C>T (p.Ala1071Val) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11595086 CV299852 NM_006929.5(SKIC2):c.3212C>T (p.Ala1071Val) variant EFO:0020166 ATP synthase subunit beta, mitochondrial measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11595086 CV299852 NM_006929.5(SKIC2):c.3212C>T (p.Ala1071Val) variant EFO:0801759 leucine-rich repeat and transmembrane domain-containing protein 2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11595086 CV299852 NM_006929.5(SKIC2):c.3212C>T (p.Ala1071Val) variant EFO:0801996 regulator of G-protein signaling 19 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11595086 CV299852 NM_006929.5(SKIC2):c.3212C>T (p.Ala1071Val) variant EFO:0802288 armadillo repeat-containing protein 5 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11595236 CV303509 NM_003221.4(TFAP2B):c.*4124T>C variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 11595293 CV289207 NM_014946.4(SPAST):c.*98A>G variant EFO:0009958 response to bisphosphonate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31006051 11595293 CV289207 NM_014946.4(SPAST):c.*98A>G variant EFO:0009960 atypical femoral fracture IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31006051 11595572 CV292123 NM_033159.4(HYAL1):c.*492C>T variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 11595683 CV284623 NM_001372051.1(CASP8):c.*83G>A variant EFO:0005091 monocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11595711 CV290310 NM_198407.2(GHSR):c.*122C>T variant EFO:0008328 chronotype measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30696823 11595778 CV283845 NM_002148.4(HOXD10):c.*585C>T variant EFO:0004274 gout IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39406924 11595778 CV283845 NM_002148.4(HOXD10):c.*585C>T variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11596023 CV292179 NM_053025.4(MYLK):c.-72C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11596147 CV293914 NM_005141.5(FGB):c.*1369G>A variant EFO:0004304 obsolete_blood sedimentation IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39414775 11596147 CV293914 NM_005141.5(FGB):c.*1369G>A variant EFO:0004623 obsolete_fibrinogen measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11596147 CV293914 NM_005141.5(FGB):c.*1369G>A variant EFO:0020313 d-dimer measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11596147 CV293914 NM_005141.5(FGB):c.*1369G>A variant EFO:0020374 obsolete_fibrinogen gamma chain measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11596288 CV279114 NM_003238.6(TGFB2):c.*1310C>T variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11596288 CV279114 NM_003238.6(TGFB2):c.*1310C>T variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11596405 CV281670 NM_003466.4(PAX8):c.*1000T>C variant EFO:1000910 dysplasia of cervix IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36929174 11596405 CV281670 NM_003466.4(PAX8):c.*1000T>C variant EFO:HP:0030160 Cervicitis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36929174 11596492 CV283945 NM_003466.4(PAX8):c.*1044A>C variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11596513 CV297534 NM_004453.4(ETFDH):c.*135A>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11596513 CV297534 NM_004453.4(ETFDH):c.*135A>C variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11596513 CV297534 NM_004453.4(ETFDH):c.*135A>C variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11596513 CV297534 NM_004453.4(ETFDH):c.*135A>C variant EFO:0021039 decanoylcarnitine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11596513 CV297534 NM_004453.4(ETFDH):c.*135A>C variant EFO:0021042 octanoylcarnitine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 11596513 CV297534 NM_004453.4(ETFDH):c.*135A>C variant EFO:0021804 dodecanoylcarnitine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35995766 11596513 CV297534 NM_004453.4(ETFDH):c.*135A>C variant EFO:0022091 Cis-4-decenoyl carnitine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 11596513 CV297534 NM_004453.4(ETFDH):c.*135A>C variant EFO:0800381 nonanoylcarnitine (C9) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11596513 CV297534 NM_004453.4(ETFDH):c.*135A>C variant EFO:0800555 5-dodecenoylcarnitine (C12:1) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 11596568 CV292873 NM_182943.3(PLOD2):c.1658A>G (p.Gln553Arg) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11596577 CV280345 NM_205861.3(DHDDS):c.*1300G>C variant EFO:0004312 vital capacity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30804560 11596577 CV280345 NM_205861.3(DHDDS):c.*1300G>C variant EFO:0004314 forced expiratory volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30804560 11596577 CV280345 NM_205861.3(DHDDS):c.*1300G>C variant EFO:0009718 peak expiratory flow IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30804560 11596726 CV284626 NM_001372051.1(CASP8):c.*122G>C variant EFO:0007990 neutrophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11596778 CV300091 NM_020041.3(SLC2A9):c.841G>C (p.Asp281His) variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11596881 CV278778 NM_005562.2(LAMC2):c.-183G>A variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11596881 CV278778 NM_005562.2(LAMC2):c.-183G>A variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11596881 CV278778 NM_005562.2(LAMC2):c.-183G>A variant EFO:0801756 laminin subunit gamma-2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11597064 CV290426 NM_000460.4(THPO):c.*59G>A variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11597064 CV290426 NM_000460.4(THPO):c.*59G>A variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11597064 CV290426 NM_000460.4(THPO):c.*59G>A variant EFO:0007985 platelet crit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11597154 CV287684 NM_002181.4(IHH):c.600G>A (p.Thr200=) variant EFO:0009278 obsolete_cranial vault morphology measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29698431 11597168 CV286053 NM_003690.5(PRKRA):c.380C>T (p.Pro127Leu) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29083408 11597413 CV300356 NM_139281.2(WDR36):c.*1427T>C variant EFO:0007614 asthma exacerbation measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33328473 11597509 CV287767 NM_015311.3(OBSL1):c.2682C>T (p.Asp894=) variant EFO:0005055 obsolete_qrs duration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36050321 11597589 CV299438 NM_004172.5(SLC1A3):c.*515A>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11597589 CV299438 NM_004172.5(SLC1A3):c.*515A>C variant EFO:0011013 vaginal microbiome measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34282934 11597684 CV302662 NM_182548.4(LHFPL5):c.*512A>T variant EFO:0007991 eosinophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11597969 CV293065 NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 11597969 CV293065 NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 11597993 CV295563 NM_001098484.3(SLC4A4):c.1271G>A (p.Gly424Asp) variant EFO:HP:0011142 Age-related nuclear cataract IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24951543 11598018 CV291130 NM_144499.3(GNAT1):c.*516T>G variant EFO:0010155 taste liking measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35585065 11598029 CV302202 NM_198586.3(NHLRC1):c.*336G>A variant EFO:0009693 thiopurine metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30201983 11598029 CV302202 NM_198586.3(NHLRC1):c.*336G>A variant EFO:OBA:2040085 trait in response to mercaptopurine IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30201983 11598176 CV282036 NM_015627.3(LDLRAP1):c.*1370G>T variant EFO:0007984 platelet component distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11598193 CV287997 NM_015311.3(OBSL1):c.4095G>C (p.Glu1365Asp) variant EFO:0004466 obsolete_fasting blood insulin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39280063 11598216 CV287296 NM_001608.4(ACADL):c.603+11A>G variant EFO:0005653 serum metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29545352 11598216 CV287296 NM_001608.4(ACADL):c.603+11A>G variant EFO:0801155 C9 carnitine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35120996 11598256 CV279268 NM_018713.3(SLC30A10):c.284C>T (p.Thr95Ile) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11598256 CV279268 NM_018713.3(SLC30A10):c.284C>T (p.Thr95Ile) variant EFO:0004735 serum alanine aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11598256 CV279268 NM_018713.3(SLC30A10):c.284C>T (p.Thr95Ile) variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11598332 CV293436 NM_001963.6(EGF):c.2073A>G (p.Ala691=) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11598492 CV291851 NM_005908.4(MANBA):c.*401G>A variant EFO:0004682 QT interval IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36050321 11598529 CV288507 NM_000373.4(UMPS):c.*4316C>A variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11598529 CV288507 NM_000373.4(UMPS):c.*4316C>A variant EFO:0005036 obsolete_platelet measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 11598677 CV282779 NM_000817.3(GAD1):c.-147G>A variant EFO:0004337 intelligence IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29942086 11598692 CV324048 NM_019844.4(SLCO1B3):c.335C>A (p.Ser112Tyr) variant EFO:0010222 ceramide measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31628463 11598750 CV308637 NM_000170.3(GLDC):c.2203G>T (p.Val735Leu) variant EFO:0009767 glycine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30837465 11598771 CV322142 NM_020975.6(RET):c.*1116T>C variant EFO:0006525 cigarettes per day measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31089300 11598838 CV313618 NM_000237.3(LPL):c.*853C>T variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35884923 11598838 CV313618 NM_000237.3(LPL):c.*853C>T variant EFO:0008317 obsolete_vldl cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11598838 CV313618 NM_000237.3(LPL):c.*853C>T variant EFO:0008596 obsolete_chylomicron measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11598838 CV313618 NM_000237.3(LPL):c.*853C>T variant EFO:0010353 diacylglycerol 34:2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 11598838 CV313618 NM_000237.3(LPL):c.*853C>T variant EFO:0020943 cholesterol:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11599154 CV313407 NM_000498.3(CYP11B2):c.*1178T>C variant EFO:0009931 Agents acting on the renin-angiotensin system use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11599415 CV312151 NM_178857.6(RP1L1):c.6723A>G (p.Ser2241=) variant EFO:0010079 obsolete_corneal endothelial cell measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30894546 11600019 CV308831 NM_033305.3(VPS13A):c.*222G>A variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11600266 CV307120 NM_001710.6(CFB):c.1693A>G (p.Lys565Glu) variant EFO:0801580 ER membrane protein complex subunit 4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11600279 CV320084 NM_000280.4(PAX6):c.*3958G>A variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28892062 11600279 CV320084 NM_000280.4(PAX6):c.*3958G>A variant EFO:0009594 irritability measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29500382 11600408 CV317889 NM_052813.5(CARD9):c.809A>T (p.Glu270Val) variant EFO:0005524 large artery stroke IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28265093 11600535 CV319603 NM_000170.3(GLDC):c.*473C>T variant EFO:0800047 3-methylglutaconate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 11600651 CV310920 NM_001174147.2(LMX1B):c.*3771G>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11600677 CV305229 NM_023110.3(FGFR1):c.-636C>T variant EFO:0004343 waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30239722 11600723 CV320472 NM_001099667.3(ARMS2):c.8G>A (p.Arg3His) variant EFO:0000537 hypertension IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 11600723 CV320472 NM_001099667.3(ARMS2):c.8G>A (p.Arg3His) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 11600723 CV320472 NM_001099667.3(ARMS2):c.8G>A (p.Arg3His) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 11600723 CV320472 NM_001099667.3(ARMS2):c.8G>A (p.Arg3His) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 11600756 CV314350 NM_005142.3(CBLIF):c.246C>T (p.Ser82=) variant EFO:0010226 phosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35393526 11600881 CV308525 NM_000237.3(LPL):c.*1742T>C variant EFO:0004529 lipid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 11600881 CV308525 NM_000237.3(LPL):c.*1742T>C variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 11600881 CV308525 NM_000237.3(LPL):c.*1742T>C variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 11600881 CV308525 NM_000237.3(LPL):c.*1742T>C variant EFO:0004639 phospholipid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 11600881 CV308525 NM_000237.3(LPL):c.*1742T>C variant EFO:0008317 obsolete_vldl cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 11600881 CV308525 NM_000237.3(LPL):c.*1742T>C variant EFO:0008589 esterified cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 11600881 CV308525 NM_000237.3(LPL):c.*1742T>C variant EFO:0008591 free cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 11600881 CV308525 NM_000237.3(LPL):c.*1742T>C variant EFO:0008596 obsolete_chylomicron measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 11600881 CV308525 NM_000237.3(LPL):c.*1742T>C variant EFO:0010118 sphingomyelin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 11600881 CV308525 NM_000237.3(LPL):c.*1742T>C variant EFO:0010353 diacylglycerol 34:2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 11600941 CV310887 NM_004273.5(CHST3):c.*2349A>G variant EFO:HP:0003418 Back pain IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35110524 11601037 CV321759 NM_004239.4(TRIP11):c.*952A>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11601081 CV307293 NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu) variant EFO:0009269 ADAMTS13 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11601286 CV313877 NM_000280.4(PAX6):c.*1184A>T variant EFO:0007869 wellbeing measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30643256 11601329 CV318566 NM_003383.5(VLDLR):c.-56C>T variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11601329 CV318566 NM_003383.5(VLDLR):c.-56C>T variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11601329 CV318566 NM_003383.5(VLDLR):c.-56C>T variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11601329 CV318566 NM_003383.5(VLDLR):c.-56C>T variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11601329 CV318566 NM_003383.5(VLDLR):c.-56C>T variant EFO:0005091 monocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11601329 CV318566 NM_003383.5(VLDLR):c.-56C>T variant EFO:0010804 obsolete_vascular endothelial growth factor a measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11601434 CV315985 NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11601434 CV315985 NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe) variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11601618 CV307246 NM_015713.4(RRM2B):c.-153G>T variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11601623 CV306855 NM_006929.5(SKIC2):c.452A>G (p.Gln151Arg) variant EFO:0008096 complement factor B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 11601719 CV306388 NM_005502.4(ABCA1):c.720+6T>C variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11601719 CV306388 NM_005502.4(ABCA1):c.720+6T>C variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11601719 CV306388 NM_005502.4(ABCA1):c.720+6T>C variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11601748 CV306752 NM_000501.4(ELN):c.*659G>C variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 11601767 CV315970 NM_005502.4(ABCA1):c.4281G>A (p.Thr1427=) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 11601767 CV315970 NM_005502.4(ABCA1):c.4281G>A (p.Thr1427=) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 11602129 CV317497 NM_000195.5(HPS1):c.*452G>A variant EFO:0000222 acute myeloid leukemia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27903959 11602145 CV306743 NM_001174147.2(LMX1B):c.*1666C>T variant EFO:0004464 obsolete_brain measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34910505 11602158 CV313859 NM_001083111.2(GNRH1):c.47G>C (p.Trp16Ser) variant EFO:0004704 age at menopause IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29773799 11602158 CV313859 NM_001083111.2(GNRH1):c.47G>C (p.Trp16Ser) variant EFO:GO:0060279 positive regulation of ovulation IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37994447 11602223 CV323631 NM_000392.5(ABCC2):c.3563T>A (p.Val1188Glu) variant EFO:0800599 deoxycholic acid (12 or 24)-sulfate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11602276 CV306272 NM_000168.6(GLI3):c.*428C>T variant EFO:0004784 self reported educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30038396 11602276 CV306272 NM_000168.6(GLI3):c.*428C>T variant EFO:0004875 mathematical ability IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30038396 11602276 CV306272 NM_000168.6(GLI3):c.*428C>T variant EFO:0008354 cognitive function measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30038396 11602276 CV306272 NM_000168.6(GLI3):c.*428C>T variant EFO:0009396 hippocampal CA4 volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37337106 11602324 CV323666 NM_000875.5(IGF1R):c.*1087A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11602506 CV321511 NM_000124.4(ERCC6):c.4322C>T (p.Thr1441Ile) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32778093 11602557 CV317944 NM_015665.6(AAAS):c.414T>C (p.Asp138=) variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11602559 CV318698 NM_001920.5(DCN):c.*51A>G variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11602695 CV315286 NM_000318.3(PEX2):c.-164C>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11603073 CV308037 NM_000459.5(TEK):c.1798G>T (p.Val600Leu) variant EFO:0008023 angiopoietin-1 receptor, soluble measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11603073 CV308037 NM_000459.5(TEK):c.1798G>T (p.Val600Leu) variant EFO:0010600 angiopoietin-1 receptor measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33067605 11603153 CV310600 NM_000399.5(EGR2):c.*287T>A variant EFO:0005666 obsolete_thyroid peroxidase antibody measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39266554 11603162 CV308342 NM_130849.4(SLC39A4):c.1141A>G (p.Thr381Ala) variant EFO:0010934 aspartate aminotransferase to alanine aminotransferase ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11603287 CV306252 NM_001701.4(BAAT):c.*46G>A variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11603400 CV315749 NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln) variant EFO:0004735 serum alanine aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11603452 CV309348 NM_017649.5(CNNM2):c.2310C>T (p.Ala770=) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27618452 11603452 CV309348 NM_017649.5(CNNM2):c.2310C>T (p.Ala770=) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27618452 11603463 CV308459 NM_000237.3(LPL):c.*827A>T variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11603463 CV308459 NM_000237.3(LPL):c.*827A>T variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32603185 11603463 CV308459 NM_000237.3(LPL):c.*827A>T variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 11603562 CV322896 NM_004273.5(CHST3):c.*4770G>A variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32778093 11603720 CV310924 NM_000823.4(GHRHR):c.1265T>C (p.Met422Thr) variant EFO:0004627 IGF-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11603744 CV312584 NM_001497.4(B4GALT1):c.*130G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11603744 CV312584 NM_001497.4(B4GALT1):c.*130G>A variant EFO:0801409 beta-1,4-galactosyltransferase 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11603894 CV305127 NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 11603894 CV305127 NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) variant EFO:0004465 obsolete_fasting blood glucose measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23903356 11603894 CV305127 NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) variant EFO:0004467 insulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:21873549 11603894 CV305127 NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) variant EFO:0005409 obsolete_fat body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 11603894 CV305127 NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 11603906 CV314401 NM_004183.3(BEST1):c.-329C>T variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 11603906 CV314401 NM_004183.3(BEST1):c.-329C>T variant EFO:0010226 phosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 11603906 CV314401 NM_004183.3(BEST1):c.-329C>T variant EFO:0010363 lysophosphatidylcholine 20:4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 11603906 CV314401 NM_004183.3(BEST1):c.-329C>T variant EFO:0010370 lysophosphatidylethanolamine 20:4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 11603913 CV317733 NM_000020.3(ACVRL1):c.*2380C>G variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11603913 CV317733 NM_000020.3(ACVRL1):c.*2380C>G variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11603913 CV317733 NM_000020.3(ACVRL1):c.*2380C>G variant EFO:0009932 HMG CoA reductase inhibitor use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31015401 11604011 CV313380 NM_130849.4(SLC39A4):c.1069A>G (p.Thr357Ala) variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11604011 CV313380 NM_130849.4(SLC39A4):c.1069A>G (p.Thr357Ala) variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11604098 CV314652 NM_182746.3(MCM4):c.1948T>A (p.Leu650Met) variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11604098 CV314652 NM_182746.3(MCM4):c.1948T>A (p.Leu650Met) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11604098 CV314652 NM_182746.3(MCM4):c.1948T>A (p.Leu650Met) variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11604098 CV314652 NM_182746.3(MCM4):c.1948T>A (p.Leu650Met) variant EFO:0005090 basophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11604098 CV314652 NM_182746.3(MCM4):c.1948T>A (p.Leu650Met) variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11604098 CV314652 NM_182746.3(MCM4):c.1948T>A (p.Leu650Met) variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11604098 CV314652 NM_182746.3(MCM4):c.1948T>A (p.Leu650Met) variant EFO:0007991 eosinophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11604098 CV314652 NM_182746.3(MCM4):c.1948T>A (p.Leu650Met) variant EFO:0007992 basophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11604098 CV314652 NM_182746.3(MCM4):c.1948T>A (p.Leu650Met) variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11604108 CV313346 NM_000498.3(CYP11B2):c.*532G>T variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11604108 CV313346 NM_000498.3(CYP11B2):c.*532G>T variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11604108 CV313346 NM_000498.3(CYP11B2):c.*532G>T variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11604108 CV313346 NM_000498.3(CYP11B2):c.*532G>T variant EFO:0006340 mean arterial pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11604108 CV313346 NM_000498.3(CYP11B2):c.*532G>T variant EFO:0007972 androstenedione measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34822396 11604121 CV306522 NM_004577.4(PSPH):c.*361A>G variant EFO:0004735 serum alanine aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11604121 CV306522 NM_004577.4(PSPH):c.*361A>G variant EFO:0009767 glycine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30837465 11604121 CV306522 NM_004577.4(PSPH):c.*361A>G variant EFO:0009774 serine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33414548 11604170 CV306027 NM_018947.5(CYCS):c.*1718T>C variant EFO:MONDO:0007915 systemic lupus erythematosus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:19838195 11604196 CV323544 NM_000195.5(HPS1):c.*955A>G variant EFO:0020990 arginine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35995766 11604229 CV316390 NM_006721.4(ADK):c.*648C>T variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11604243 CV309223 NM_000602.5(SERPINE1):c.*1737G>A variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11604552 CV314356 NM_004281.4(BAG3):c.-271C>T variant EFO:MONDO:0005180 Parkinson disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32201043 11604690 CV309083 NM_004612.4(TGFBR1):c.*69A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11604733 CV304337 NM_001127671.2(LIFR):c.346C>T (p.His116Tyr) variant EFO:0008433 pursuit maintenance gain measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29064472 11604802 CV315817 NM_005502.4(ABCA1):c.4760A>G (p.Lys1587Arg) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11604832 CV319975 NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu) variant EFO:0010118 sphingomyelin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11604832 CV319975 NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu) variant EFO:0010222 ceramide measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 11605001 CV306893 NM_006929.5(SKIC2):c.2749G>A (p.Val917Met) variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11605054 CV315607 NM_001378373.1(MBL2):c.*865A>C variant EFO:0008224 mannose-binding protein C measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 11605186 CV314432 NM_001099667.3(ARMS2):c.112C>T (p.Arg38Ter) variant EFO:0004143 carpal tunnel syndrome IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35332129 11605262 CV308018 NM_003221.4(TFAP2B):c.*1801G>A variant EFO:0004274 gout IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39406924 11605262 CV308018 NM_003221.4(TFAP2B):c.*1801G>A variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 11605262 CV308018 NM_003221.4(TFAP2B):c.*1801G>A variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11605262 CV308018 NM_003221.4(TFAP2B):c.*1801G>A variant EFO:0005937 longitudinal BMI measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31840077 11605262 CV308018 NM_003221.4(TFAP2B):c.*1801G>A variant EFO:0008007 age at assessment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31840077 11605368 CV317614 NM_000787.4(DBH):c.1645C>T (p.Arg549Cys) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30578418 11605368 CV317614 NM_000787.4(DBH):c.1645C>T (p.Arg549Cys) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28739976 11605368 CV317614 NM_000787.4(DBH):c.1645C>T (p.Arg549Cys) variant EFO:0006340 mean arterial pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11605368 CV317614 NM_000787.4(DBH):c.1645C>T (p.Arg549Cys) variant EFO:0009930 Calcium channel blocker use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31015401 11605368 CV317614 NM_000787.4(DBH):c.1645C>T (p.Arg549Cys) variant EFO:0021355 X-13553 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 11605368 CV317614 NM_000787.4(DBH):c.1645C>T (p.Arg549Cys) variant EFO:0800119 vanillylmandelate (VMA) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 11605368 CV317614 NM_000787.4(DBH):c.1645C>T (p.Arg549Cys) variant EFO:0800720 X-12707 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 11605456 CV312437 NM_018325.5(C9orf72):c.*248T>C variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38632349 11605505 CV308130 NM_006096.4(NDRG1):c.*691G>A variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11605691 CV312070 NM_015713.5(RRM2B):c.*3463C>T variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11605711 CV320956 NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val) variant EFO:0004285 albuminuria IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30220432 11605711 CV320956 NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val) variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11605711 CV320956 NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val) variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39256582 11605711 CV320956 NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val) variant EFO:0007778 urinary albumin to creatinine ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31630189 11605711 CV320956 NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val) variant EFO:0010967 urinary microalbumin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11605925 CV317896 NM_052813.5(CARD9):c.693G>A (p.Thr231=) variant EFO:0005413 joint damage measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26498133 11606102 CV312214 NM_178857.6(RP1L1):c.5126C>T (p.Ala1709Val) variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11606255 CV312021 NM_000392.5(ABCC2):c.4544G>A (p.Cys1515Tyr) variant EFO:0020007 X-21467 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0001645 coronary artery disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29212778 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0004343 waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30239722 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0004529 lipid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28270201 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0004639 phospholipid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0005689 non-high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0007806 total cholesterol change measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0008317 obsolete_vldl cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0008589 esterified cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0008591 free cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0008592 obsolete_hdl particle size measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0008595 intermediate density lipoprotein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0009932 HMG CoA reductase inhibitor use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31015401 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0010118 sphingomyelin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0010226 phosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0010351 cholesteryl ester measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0010352 diacylglycerol 34:1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0010353 diacylglycerol 34:2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0010355 diacylglycerol 36:2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0010414 triacylglycerol 52:2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37907536 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0010441 triacylglycerol 58:7 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37907536 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0020062 diacylglycerol 36:3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0020063 diacylglycerol 36:4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0020069 diacylglycerol 44:7 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0020943 cholesterol:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0020944 cholesteryl esters:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0020945 free cholesterol:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0020946 phospholipids:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0020947 triglycerides:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0021903 cholesterol in medium HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0022149 triglycerides in IDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0022157 free cholesterol in large HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0022159 cholesterol esters in large HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0022189 total lipids in large HDL IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0022190 phospholipids in large HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0022238 cholesterol to total lipids in medium LDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0022267 free cholesterol in medium HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0022273 free cholesterol in very large HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0022293 phospholipids in HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0022295 phospholipids in medium HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0022298 phospholipids in very large HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0022307 total lipids in HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0022310 total lipids in medium HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0022312 total lipids in very large HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0022319 triglycerides in large LDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:0022323 triglycerides in small LDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:OBA:2045163 level of Triacylglycerol (51:3) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37907536 11606279 CV313723 NM_000237.3(LPL):c.*1846C>T variant EFO:OBA:2045165 level of Triacylglycerol (53:3) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37907536 11606319 CV321438 NM_001081.4(CUBN):c.9005A>G (p.Glu3002Gly) variant EFO:0010967 urinary microalbumin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11606353 CV312390 NM_178857.6(RP1L1):c.2578C>T (p.Arg860Trp) variant EFO:0803370 photoreceptor cell layer thickness measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36848389 11606407 CV305010 NM_000883.4(IMPDH1):c.*228G>A variant EFO:0004710 pelvic organ prolapse IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35739095 11606473 CV306387 NM_005502.4(ABCA1):c.936C>T (p.Pro312=) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 11606519 CV316143 NM_005502.3(ABCA1):c.-327C>T variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33356394 11606555 CV309571 NM_001366110.1(PAX4):c.598C>A (p.Arg200Ser) variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32514122 11606705 CV307825 NM_001379081.2(FREM1):c.3819T>A (p.Asp1273Glu) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32778093 11606820 CV323908 NM_000900.5(MGP):c.-63G>A variant EFO:1000789 osteoarthritis, hand IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36931692 11606865 CV312171 NM_001025389.1(AMPD3):c.-312A>G variant EFO:0007988 obsolete_myeloid white cell count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11606913 CV311236 NM_001365308.1(BMPER):c.*1217A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11606954 CV321993 NM_139057.4(ADAMTS17):c.647C>T (p.Ser216Leu) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11607111 CV316228 NM_152269.5(MTRFR):c.*483G>A variant EFO:0008354 cognitive function measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30038396 11607111 CV316228 NM_152269.5(MTRFR):c.*483G>A variant EFO:0011015 educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34743297 11607111 CV316228 NM_152269.5(MTRFR):c.*483G>A variant EFO:MONDO:0004975 Alzheimer disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34743297 11607243 CV312440 NM_178857.6(RP1L1):c.2375T>C (p.Leu792Pro) variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31761296 11607547 CV315245 NM_017866.6(TMEM70):c.*892A>G variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11607675 CV306400 NM_005502.4(ABCA1):c.254C>T (p.Pro85Leu) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11607675 CV306400 NM_005502.4(ABCA1):c.254C>T (p.Pro85Leu) variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11607732 CV314829 NM_017813.5(BPNT2):c.856A>G (p.Lys286Glu) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11607732 CV314829 NM_017813.5(BPNT2):c.856A>G (p.Lys286Glu) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11607732 CV314829 NM_017813.5(BPNT2):c.856A>G (p.Lys286Glu) variant EFO:0801698 inositol monophosphatase 3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11607771 CV313605 NM_000237.3(LPL):c.*371T>C variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35546142 11607771 CV313605 NM_000237.3(LPL):c.*371T>C variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35546142 11607986 CV310725 NM_018947.5(CYCS):c.*4516C>T variant EFO:0011013 vaginal microbiome measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34282934 11608130 CV307609 NM_052813.5(CARD9):c.126C>T (p.Pro42=) variant EFO:0000384 Crohn's disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26192919 11608130 CV307609 NM_052813.5(CARD9):c.126C>T (p.Pro42=) variant EFO:0000729 ulcerative colitis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:21297633 11608130 CV307609 NM_052813.5(CARD9):c.126C>T (p.Pro42=) variant EFO:0003767 inflammatory bowel disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23128233 11608207 CV320094 NM_005708.5(GPC6):c.1234G>A (p.Val412Met) variant EFO:0021871 glypican-6 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11608252 CV320646 NM_021926.4(ALX4):c.104G>C (p.Arg35Thr) variant EFO:0005677 puberty onset measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32210231 11608295 CV323500 NM_000545.8(HNF1A):c.*603G>A variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 11608337 CV319486 NM_000264.5(PTCH1):c.*1373G>C variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11608484 CV318395 NM_174934.4(SCN4B):c.*2623A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11608688 CV321731 NM_006019.4(TCIRG1):c.166C>T (p.Arg56Trp) variant EFO:0004535 obsolete_serum albumin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11608688 CV321731 NM_006019.4(TCIRG1):c.166C>T (p.Arg56Trp) variant EFO:0004568 obsolete_serum non-albumin protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11608688 CV321731 NM_006019.4(TCIRG1):c.166C>T (p.Arg56Trp) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11608688 CV321731 NM_006019.4(TCIRG1):c.166C>T (p.Arg56Trp) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11608688 CV321731 NM_006019.4(TCIRG1):c.166C>T (p.Arg56Trp) variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11608903 CV313947 NM_003477.3(PDHX):c.301A>G (p.Thr101Ala) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11608903 CV313947 NM_003477.3(PDHX):c.301A>G (p.Thr101Ala) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11608910 CV306761 NM_000063.6(C2):c.1023G>A (p.Ala341=) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11608910 CV306761 NM_000063.6(C2):c.1023G>A (p.Ala341=) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11608910 CV306761 NM_000063.6(C2):c.1023G>A (p.Ala341=) variant EFO:0008178 interleukin 18 receptor 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11608910 CV306761 NM_000063.6(C2):c.1023G>A (p.Ala341=) variant EFO:0020108 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11608910 CV306761 NM_000063.6(C2):c.1023G>A (p.Ala341=) variant EFO:0020330 obsolete_dna repair protein rad51 homolog 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11608910 CV306761 NM_000063.6(C2):c.1023G>A (p.Ala341=) variant EFO:0020834 tyrosine-protein phosphatase non-receptor type 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11608910 CV306761 NM_000063.6(C2):c.1023G>A (p.Ala341=) variant EFO:0801580 ER membrane protein complex subunit 4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11608910 CV306761 NM_000063.6(C2):c.1023G>A (p.Ala341=) variant EFO:0802437 cullin-9 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11609006 CV322905 NM_000618.5(IGF1):c.*2652T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11609032 CV318056 NM_001029.5(RPS26):c.-22C>G variant EFO:0004536 total blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11609032 CV318056 NM_001029.5(RPS26):c.-22C>G variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11609112 CV310419 NM_005502.4(ABCA1):c.*3083T>C variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 11609118 CV322628 NM_000281.3(PCBD1):c.-132C>A variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11609140 CV317163 NM_000787.4(DBH):c.235C>T (p.Arg79Trp) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27618447 11609140 CV317163 NM_000787.4(DBH):c.235C>T (p.Arg79Trp) variant EFO:0021355 X-13553 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 11609140 CV317163 NM_000787.4(DBH):c.235C>T (p.Arg79Trp) variant EFO:0800119 vanillylmandelate (VMA) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 11609140 CV317163 NM_000787.4(DBH):c.235C>T (p.Arg79Trp) variant EFO:0800720 X-12707 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 11609145 CV305060 NM_005989.4(AKR1D1):c.*36C>T variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 11609145 CV305060 NM_005989.4(AKR1D1):c.*36C>T variant EFO:0004908 testosterone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32042192 11609145 CV305060 NM_005989.4(AKR1D1):c.*36C>T variant EFO:0021339 X-12844 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 11609145 CV305060 NM_005989.4(AKR1D1):c.*36C>T variant EFO:0800773 X-17340 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 11609158 CV324092 NM_006446.5(SLCO1B1):c.463C>A (p.Pro155Thr) variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33356394 11609158 CV324092 NM_006446.5(SLCO1B1):c.463C>A (p.Pro155Thr) variant EFO:0010225 lysophosphatidylethanolamine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 11609288 CV320753 NM_004132.5(HABP2):c.95G>T (p.Ser32Ile) variant EFO:0801649 glypican-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11609295 CV305774 NM_000045.3(ARG1):c.-65C>T variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35995766 11609295 CV305774 NM_000045.3(ARG1):c.-65C>T variant EFO:0005653 serum metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33031748 11609295 CV305774 NM_000045.3(ARG1):c.-65C>T variant EFO:0005664 blood metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 11609295 CV305774 NM_000045.3(ARG1):c.-65C>T variant EFO:0009776 ornithine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 11609295 CV305774 NM_000045.3(ARG1):c.-65C>T variant EFO:0020990 arginine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 11609481 CV316533 NM_019844.4(SLCO1B3):c.767G>C (p.Gly256Ala) variant EFO:0004735 serum alanine aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38632349 11609594 CV307155 NM_006929.5(SKIC2):c.1200A>G (p.Thr400=) variant EFO:0021241 X-11470 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 11609650 CV315647 NM_030962.4(SBF2):c.2035G>A (p.Glu679Lys) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37106081 11609943 CV305064 NM_005989.4(AKR1D1):c.*507G>A variant EFO:0004908 testosterone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32042192 11609943 CV305064 NM_005989.4(AKR1D1):c.*507G>A variant EFO:0021339 X-12844 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11609957 CV311770 NM_001001548.3(CD36):c.-132A>C variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11609986 CV318982 NM_001846.4(COL4A2):c.2152C>T (p.Pro718Ser) variant EFO:0009795 obsolete_serum urea measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11610014 CV304259 NM_001127671.2(LIFR):c.*1470T>G variant EFO:0010788 leukemia inhibitory factor receptor measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 11610136 CV311197 NM_001365308.1(BMPER):c.1663C>T (p.Arg555Trp) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11610161 CV309880 NM_001081.4(CUBN):c.8741C>T (p.Ala2914Val) variant EFO:0004285 albuminuria IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30220432 11610161 CV309880 NM_001081.4(CUBN):c.8741C>T (p.Ala2914Val) variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11610161 CV309880 NM_001081.4(CUBN):c.8741C>T (p.Ala2914Val) variant EFO:0004761 uric acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11610161 CV309880 NM_001081.4(CUBN):c.8741C>T (p.Ala2914Val) variant EFO:0007778 urinary albumin to creatinine ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31630189 11610161 CV309880 NM_001081.4(CUBN):c.8741C>T (p.Ala2914Val) variant EFO:0010967 urinary microalbumin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11610161 CV309880 NM_001081.4(CUBN):c.8741C>T (p.Ala2914Val) variant EFO:HP:0012594 Moderate albuminuria IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31511532 11610164 CV311860 NM_052813.5(CARD9):c.324C>T (p.Asp108=) variant EFO:0004749 CCL2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23251661 11610266 CV316013 NM_005502.4(ABCA1):c.2311G>A (p.Val771Met) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11610266 CV316013 NM_005502.4(ABCA1):c.2311G>A (p.Val771Met) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11610266 CV316013 NM_005502.4(ABCA1):c.2311G>A (p.Val771Met) variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11610266 CV316013 NM_005502.4(ABCA1):c.2311G>A (p.Val771Met) variant EFO:0020943 cholesterol:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11610266 CV316013 NM_005502.4(ABCA1):c.2311G>A (p.Val771Met) variant EFO:0020944 cholesteryl esters:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11610266 CV316013 NM_005502.4(ABCA1):c.2311G>A (p.Val771Met) variant EFO:0020946 phospholipids:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11610358 CV321032 NM_001081.4(CUBN):c.758T>C (p.Phe253Ser) variant EFO:0004620 vitamin B12 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23754956 11610411 CV308491 NM_000237.3(LPL):c.*1224C>A variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11610411 CV308491 NM_000237.3(LPL):c.*1224C>A variant EFO:0010352 diacylglycerol 34:1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 11610431 CV318734 NM_005188.4(CBL):c.*7447A>G variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11610444 CV317586 NM_000787.4(DBH):c.263G>C (p.Gly88Ala) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11610444 CV317586 NM_000787.4(DBH):c.263G>C (p.Gly88Ala) variant EFO:0006340 mean arterial pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27618448 11610460 CV312716 NM_003995.4(NPR2):c.1794C>T (p.Tyr598=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11610510 CV315774 NM_000399.5(EGR2):c.*874A>G variant EFO:0005666 obsolete_thyroid peroxidase antibody measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39266554 11610533 CV323333 NM_181486.4(TBX5):c.*97G>A variant EFO:0000275 atrial fibrillation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28416818 11610533 CV323333 NM_181486.4(TBX5):c.*97G>A variant EFO:0004269 cardiac arrhythmia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32514122 11610533 CV323333 NM_181486.4(TBX5):c.*97G>A variant EFO:0005055 obsolete_qrs duration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27577874 11610533 CV323333 NM_181486.4(TBX5):c.*97G>A variant EFO:1001976 cardioembolic stroke IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35872910 11610533 CV323333 NM_181486.4(TBX5):c.*97G>A variant EFO:MONDO:0015263 Brugada syndrome IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38747976 11610954 CV321599 NM_001378373.1(MBL2):c.*2388T>G variant EFO:0008224 mannose-binding protein C measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28240269 11610984 CV320825 NM_001081.4(CUBN):c.8950A>G (p.Ile2984Val) variant EFO:0004285 albuminuria IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30910378 11611195 CV319609 NM_000170.3(GLDC):c.2988G>C (p.Gln996His) variant EFO:0800074 3-methylglutarylcarnitine (2) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 11611195 CV319609 NM_000170.3(GLDC):c.2988G>C (p.Gln996His) variant EFO:0800233 hexanoylglycine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 11611242 CV312288 NM_178857.6(RP1L1):c.6209A>T (p.Glu2070Val) variant EFO:0008579 risk-taking behaviour IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30643258 11611425 CV315840 NM_005502.4(ABCA1):c.3516G>C (p.Glu1172Asp) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11611425 CV315840 NM_005502.4(ABCA1):c.3516G>C (p.Glu1172Asp) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11611425 CV315840 NM_005502.4(ABCA1):c.3516G>C (p.Glu1172Asp) variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11611494 CV306580 NM_198586.3(NHLRC1):c.*621T>A variant EFO:0022597 aging IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34187551 11611526 CV307954 NM_003221.3(TFAP2B):c.-34G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11611533 CV306401 NM_005502.4(ABCA1):c.-18G>C variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 11611533 CV306401 NM_005502.4(ABCA1):c.-18G>C variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11611533 CV306401 NM_005502.4(ABCA1):c.-18G>C variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11611533 CV306401 NM_005502.4(ABCA1):c.-18G>C variant EFO:MONDO:0004975 Alzheimer disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35379992 11611535 CV310472 NM_005502.4(ABCA1):c.5039G>A (p.Arg1680Gln) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11611535 CV310472 NM_005502.4(ABCA1):c.5039G>A (p.Arg1680Gln) variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11611570 CV309738 NM_001366110.1(PAX4):c.*287C>T variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35551307 11611609 CV320586 NM_021926.4(ALX4):c.*973G>A variant EFO:0006906 virologic response measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25461247 11611609 CV320586 NM_021926.4(ALX4):c.*973G>A variant EFO:OBA:2040005 trait in response to efavirenz IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25461247 11611609 CV320586 NM_021926.4(ALX4):c.*973G>A variant EFO:OBA:2040071 trait in response to abacavir IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25461247 11611664 CV315998 NM_005502.4(ABCA1):c.2649A>G (p.Ile883Met) variant EFO:0022285 free cholesterol to total lipids in small HDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11611672 CV308961 NM_183050.4(BCKDHB):c.*236G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35831902 11611681 CV323367 NM_005996.4(TBX3):c.*739A>G variant EFO:0000284 benign prostatic hyperplasia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30410027 11611681 CV323367 NM_005996.4(TBX3):c.*739A>G variant EFO:0008008 lower urinary tract symptom IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30410027 11611702 CV322184 NM_001365088.1(SLC12A6):c.*3525C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11611734 CV306045 NM_003630.3(PEX3):c.*546A>G variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11611747 CV322857 NM_000103.4(CYP19A1):c.-39+14659C>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11611760 CV323522 NM_000195.5(HPS1):c.*982T>C variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35995766 11611869 CV315725 NM_000417.3(IL2RA):c.*70G>A variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32929287 11611869 CV315725 NM_000417.3(IL2RA):c.*70G>A variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32929287 11611920 CV322136 NM_001191061.2(SLC25A22):c.*453C>T variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 11611920 CV322136 NM_001191061.2(SLC25A22):c.*453C>T variant EFO:0005213 central corneal thickness IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35446358 11611920 CV322136 NM_001191061.2(SLC25A22):c.*453C>T variant EFO:0010067 corneal resistance factor IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35446358 11612010 CV323496 NM_000545.8(HNF1A):c.*438G>A variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:18439552 11612090 CV316110 NM_005502.4(ABCA1):c.688C>T (p.Arg230Cys) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30275531 11612090 CV316110 NM_005502.4(ABCA1):c.688C>T (p.Arg230Cys) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30275531 11612162 CV307683 NM_002546.3(TNFRSF11B):c.-223C>T variant EFO:MONDO:0004979 asthma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29273806 11612395 CV317914 NM_052813.5(CARD9):c.35G>A (p.Ser12Asn) variant EFO:0000384 Crohn's disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:21102463 11612395 CV317914 NM_052813.5(CARD9):c.35G>A (p.Ser12Asn) variant EFO:0004194 IGA glomerulonephritis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25305756 11612395 CV317914 NM_052813.5(CARD9):c.35G>A (p.Ser12Asn) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11612430 CV343503 NM_000078.3(CETP):c.861C>T (p.Phe287=) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11612430 CV343503 NM_000078.3(CETP):c.861C>T (p.Phe287=) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11612430 CV343503 NM_000078.3(CETP):c.861C>T (p.Phe287=) variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11612477 CV338008 NM_002473.6(MYH9):c.*800T>C variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11612477 CV338008 NM_002473.6(MYH9):c.*800T>C variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11612477 CV338008 NM_002473.6(MYH9):c.*800T>C variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11612477 CV338008 NM_002473.6(MYH9):c.*800T>C variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11612477 CV338008 NM_002473.6(MYH9):c.*800T>C variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11612523 CV337761 NM_020529.3(NFKBIA):c.*126G>A variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11612523 CV337761 NM_020529.3(NFKBIA):c.*126G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11612523 CV337761 NM_020529.3(NFKBIA):c.*126G>A variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11612716 CV330952 NM_020638.3(FGF23):c.716C>T (p.Thr239Met) variant EFO:0010972 blood phosphate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11612742 CV331525 NM_001080467.3(MYO5B):c.2753G>A (p.Arg918His) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11612742 CV331525 NM_001080467.3(MYO5B):c.2753G>A (p.Arg918His) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11612742 CV331525 NM_001080467.3(MYO5B):c.2753G>A (p.Arg918His) variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11613060 CV342608 NM_020686.6(ABAT):c.*242G>T variant EFO:0003948 gastroesophageal reflux disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35851147 11613060 CV342608 NM_020686.6(ABAT):c.*242G>T variant EFO:MONDO:0004975 Alzheimer disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35851147 11613070 CV336185 NM_000161.3(GCH1):c.-121T>C variant EFO:MONDO:0001703 color vision disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37359372 11613189 CV341086 NM_003321.5(TUFM):c.817+13T>C variant EFO:0007800 body fat percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26833246 11613367 CV324670 NM_001039.4(SCNN1G):c.-31A>G variant EFO:0004236 focal segmental glomerulosclerosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36623684 11613378 CV326782 NM_004813.4(PEX16):c.*303C>T variant EFO:0802578 glycosyltransferase-like protein LARGE1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11613477 CV343850 NM_015386.3(COG4):c.*85T>G variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 11613656 CV330056 NM_001355436.2(SPTB):c.996C>T (p.Asn332=) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11613818 CV327207 NM_000280.4(PAX6):c.*3202G>A variant EFO:0007660 neuroticism measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29942085 11613848 CV337817 NM_001042492.3(NF1):c.*2829T>C variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 11614089 CV328670 NM_000342.4(SLC4A1):c.*897G>A variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11614089 CV328670 NM_000342.4(SLC4A1):c.*897G>A variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11614126 CV329242 NM_020529.3(NFKBIA):c.*2C>T variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11614126 CV329242 NM_020529.3(NFKBIA):c.*2C>T variant EFO:0004536 total blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11614126 CV329242 NM_020529.3(NFKBIA):c.*2C>T variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33097823 11614126 CV329242 NM_020529.3(NFKBIA):c.*2C>T variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30578418 11614126 CV329242 NM_020529.3(NFKBIA):c.*2C>T variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28739976 11614126 CV329242 NM_020529.3(NFKBIA):c.*2C>T variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11614171 CV331457 NM_006446.5(SLCO1B1):c.481+1G>T variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35995766 11614171 CV331457 NM_006446.5(SLCO1B1):c.481+1G>T variant EFO:0021055 hexadecanedioate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 11614171 CV331457 NM_006446.5(SLCO1B1):c.481+1G>T variant EFO:0800276 glycocholenate sulfate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 11614179 CV343050 NM_002386.4(MC1R):c.247T>C (p.Ser83Pro) variant EFO:0007822 obsolete_hair colour measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34737426 11614219 CV336028 NM_001361.5(DHODH):c.*748C>T variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11614334 CV331906 NM_001374385.1(ATP8B1):c.*1723G>A variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11614334 CV331906 NM_001374385.1(ATP8B1):c.*1723G>A variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11614334 CV331906 NM_001374385.1(ATP8B1):c.*1723G>A variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11614334 CV331906 NM_001374385.1(ATP8B1):c.*1723G>A variant EFO:0010222 ceramide measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 11614397 CV330504 NM_170665.4(ATP2A2):c.-403C>G variant EFO:0009963 bipolar I disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31043756 11614496 CV330721 NM_005996.4(TBX3):c.*1510A>G variant EFO:0000305 breast carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32424353 11614496 CV330721 NM_005996.4(TBX3):c.*1510A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11614496 CV330721 NM_005996.4(TBX3):c.*1510A>G variant EFO:0004627 IGF-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11614496 CV330721 NM_005996.4(TBX3):c.*1510A>G variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11614496 CV330721 NM_005996.4(TBX3):c.*1510A>G variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11614519 CV326552 NM_000239.3(LYZ):c.263C>A (p.Thr88Asn) variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11614519 CV326552 NM_000239.3(LYZ):c.263C>A (p.Thr88Asn) variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11614519 CV326552 NM_000239.3(LYZ):c.263C>A (p.Thr88Asn) variant EFO:0005091 monocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11614519 CV326552 NM_000239.3(LYZ):c.263C>A (p.Thr88Asn) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32929287 11614519 CV326552 NM_000239.3(LYZ):c.263C>A (p.Thr88Asn) variant EFO:0007989 monocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11614519 CV326552 NM_000239.3(LYZ):c.263C>A (p.Thr88Asn) variant EFO:0007997 granulocyte percentage of myeloid white cells IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11614519 CV326552 NM_000239.3(LYZ):c.263C>A (p.Thr88Asn) variant EFO:0008216 lysozyme C measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11614519 CV326552 NM_000239.3(LYZ):c.263C>A (p.Thr88Asn) variant EFO:0803547 monocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 11614519 CV326552 NM_000239.3(LYZ):c.263C>A (p.Thr88Asn) variant EFO:0803548 neutrophil measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 11614519 CV326552 NM_000239.3(LYZ):c.263C>A (p.Thr88Asn) variant EFO:HP:0000155 Oral ulcer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30837455 11614521 CV331152 NM_000295.5(SERPINA1):c.*481G>A variant EFO:OBA:2042800 level of phosphoenolpyruvate carboxykinase [GTP], mitochondrial in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 11614617 CV334091 NM_004970.3(IGFALS):c.1386C>T (p.Tyr462=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11614636 CV337339 NM_002615.7(SERPINF1):c.215C>T (p.Thr72Met) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30072576 11614866 CV331088 NM_000376.3(VDR):c.2T>C (p.Met1Thr) variant EFO:0007991 eosinophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11614995 CV337591 NM_000369.5(TSHR):c.*909C>T variant EFO:0002689 antiphospholipid syndrome IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28424481 11615207 CV335894 NM_002591.4(PCK1):c.489A>G (p.Ser163=) variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11615207 CV335894 NM_002591.4(PCK1):c.489A>G (p.Ser163=) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11615470 CV343220 NM_000285.4(PEPD):c.1131C>T (p.His377=) variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11615584 CV331148 NM_000295.5(SERPINA1):c.*1067G>A variant EFO:0004535 obsolete_serum albumin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11615733 CV335149 NM_001845.6(COL4A1):c.*587C>A variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30578418 11615771 CV332783 NM_005902.4(SMAD3):c.*402C>T variant EFO:0004312 vital capacity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30061609 11616008 CV335542 NM_000078.3(CETP):c.1168G>C (p.Ala390Pro) variant EFO:0004529 lipid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 11616008 CV335542 NM_000078.3(CETP):c.1168G>C (p.Ala390Pro) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35945198 11616008 CV335542 NM_000078.3(CETP):c.1168G>C (p.Ala390Pro) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24886709 11616219 CV326105 NM_000229.2(LCAT):c.1039C>T (p.Arg347Cys) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11616219 CV326105 NM_000229.2(LCAT):c.1039C>T (p.Arg347Cys) variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11616397 CV342520 NM_003331.5(TYK2):c.2107C>T (p.Arg703Trp) variant EFO:MONDO:0007915 systemic lupus erythematosus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33272962 11616541 CV342212 NM_004970.3(IGFALS):c.1642C>T (p.Arg548Trp) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11616699 CV337170 NM_206965.2(FTCD):c.301G>A (p.Val101Met) variant EFO:0021895 formimidoyltransferase-cyclodeaminase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11616965 CV330041 NM_004870.4(MPDU1):c.*308G>T variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11616965 CV330041 NM_004870.4(MPDU1):c.*308G>T variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11616965 CV330041 NM_004870.4(MPDU1):c.*308G>T variant EFO:0004627 IGF-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11616965 CV330041 NM_004870.4(MPDU1):c.*308G>T variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11616965 CV330041 NM_004870.4(MPDU1):c.*308G>T variant EFO:0004908 testosterone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31169883 11616994 CV331438 NM_019844.4(SLCO1B3):c.1977G>A (p.Ser659=) variant EFO:0021376 X-14658 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 11616994 CV331438 NM_019844.4(SLCO1B3):c.1977G>A (p.Ser659=) variant EFO:0022097 Glycochenodeoxycholate sulfate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 11616994 CV331438 NM_019844.4(SLCO1B3):c.1977G>A (p.Ser659=) variant EFO:0800814 X-21441 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11617271 CV334922 NM_000361.3(THBD):c.1418C>T (p.Ala473Val) variant EFO:0007774 thrombomodulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33067605 11617395 CV332460 NM_000527.5(LDLR):c.*315G>C variant EFO:0000612 myocardial infarction IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11617395 CV332460 NM_000527.5(LDLR):c.*315G>C variant EFO:0001645 coronary artery disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32469254 11617395 CV332460 NM_000527.5(LDLR):c.*315G>C variant EFO:0003913 angina pectoris IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11617395 CV332460 NM_000527.5(LDLR):c.*315G>C variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37479695 11617395 CV332460 NM_000527.5(LDLR):c.*315G>C variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28334899 11617395 CV332460 NM_000527.5(LDLR):c.*315G>C variant EFO:0005689 non-high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 11617395 CV332460 NM_000527.5(LDLR):c.*315G>C variant EFO:0009932 HMG CoA reductase inhibitor use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11617494 CV342632 NM_003321.5(TUFM):c.-55T>C variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11617888 CV339832 NM_004239.4(TRIP11):c.*430A>G variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11617958 CV325203 NM_022370.4(ROBO3):c.1267G>A (p.Val423Met) variant EFO:0004346 neuroimaging measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33875891 11617958 CV325203 NM_022370.4(ROBO3):c.1267G>A (p.Val423Met) variant EFO:0005674 white matter microstructure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33875891 11618081 CV330068 NM_006446.5(SLCO1B1):c.411G>A (p.Ser137=) variant EFO:0800281 21-hydroxypregnenolone disulfate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 11618325 CV334821 NM_000214.3(JAG1):c.-385T>G variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37106081 11618332 CV325942 NM_000078.3(CETP):c.*84G>A variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 11618332 CV325942 NM_000078.3(CETP):c.*84G>A variant EFO:0008591 free cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 11618340 CV337290 NM_012452.3(TNFRSF13B):c.752C>T (p.Pro251Leu) variant EFO:0001378 multiple myeloma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27363682 11618340 CV337290 NM_012452.3(TNFRSF13B):c.752C>T (p.Pro251Leu) variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11618340 CV337290 NM_012452.3(TNFRSF13B):c.752C>T (p.Pro251Leu) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11618340 CV337290 NM_012452.3(TNFRSF13B):c.752C>T (p.Pro251Leu) variant EFO:0004535 obsolete_serum albumin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11618340 CV337290 NM_012452.3(TNFRSF13B):c.752C>T (p.Pro251Leu) variant EFO:0004536 total blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11618340 CV337290 NM_012452.3(TNFRSF13B):c.752C>T (p.Pro251Leu) variant EFO:0004565 obsolete_serum IgG measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28628107 11618340 CV337290 NM_012452.3(TNFRSF13B):c.752C>T (p.Pro251Leu) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11618340 CV337290 NM_012452.3(TNFRSF13B):c.752C>T (p.Pro251Leu) variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11618340 CV337290 NM_012452.3(TNFRSF13B):c.752C>T (p.Pro251Leu) variant EFO:0008317 obsolete_vldl cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11618340 CV337290 NM_012452.3(TNFRSF13B):c.752C>T (p.Pro251Leu) variant EFO:0008593 obsolete_ldl particle size measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11618340 CV337290 NM_012452.3(TNFRSF13B):c.752C>T (p.Pro251Leu) variant EFO:0008596 obsolete_chylomicron measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11618340 CV337290 NM_012452.3(TNFRSF13B):c.752C>T (p.Pro251Leu) variant EFO:0020806 obsolete_tumor necrosis factor receptor superfamily member 17 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11618340 CV337290 NM_012452.3(TNFRSF13B):c.752C>T (p.Pro251Leu) variant EFO:0020943 cholesterol:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11618340 CV337290 NM_012452.3(TNFRSF13B):c.752C>T (p.Pro251Leu) variant EFO:0020945 free cholesterol:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11618340 CV337290 NM_012452.3(TNFRSF13B):c.752C>T (p.Pro251Leu) variant EFO:0022271 free cholesterol in small LDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11618465 CV339080 NM_000080.4(CHRNE):c.*868G>T variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37106081 11618465 CV339080 NM_000080.4(CHRNE):c.*868G>T variant EFO:0004462 PR interval IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32439900 11618504 CV335907 NM_002591.4(PCK1):c.925G>A (p.Gly309Arg) variant EFO:0009768 glutamine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11618517 CV333412 NM_000875.5(IGF1R):c.*3766C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37106081 11618517 CV333412 NM_000875.5(IGF1R):c.*3766C>T variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11618826 CV341282 NM_022369.4(STRA6):c.*222G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11618826 CV341282 NM_022369.4(STRA6):c.*222G>A variant EFO:0004832 obsolete_optic disc size measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31809533 11619189 CV341729 NM_002968.2(SALL1):c.*997C>A variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11619189 CV341729 NM_002968.2(SALL1):c.*997C>A variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11619189 CV341729 NM_002968.2(SALL1):c.*997C>A variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 11619189 CV341729 NM_002968.2(SALL1):c.*997C>A variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11619189 CV341729 NM_002968.2(SALL1):c.*997C>A variant EFO:0004627 IGF-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11619189 CV341729 NM_002968.2(SALL1):c.*997C>A variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11619310 CV328440 NM_139276.3(STAT3):c.*1671C>T variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11619310 CV328440 NM_139276.3(STAT3):c.*1671C>T variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28135244 11619318 CV324366 NM_000392.5(ABCC2):c.4488C>T (p.His1496=) variant EFO:0800277 taurocholenate sulfate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 11619374 CV331119 NM_004064.5(CDKN1B):c.-79T>C variant EFO:MONDO:0007915 systemic lupus erythematosus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23273568 11619431 CV342293 NM_000353.3(TAT):c.43C>T (p.Pro15Ser) variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11619483 CV341124 NM_001770.6(CD19):c.520C>G (p.Leu174Val) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32929287 11619686 CV343073 NM_002386.4(MC1R):c.637C>T (p.Arg213Trp) variant EFO:0003924 hair color IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30531825 11619771 CV331523 NM_001365088.1(SLC12A6):c.*2261G>A variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32778093 11619816 CV328090 NM_005142.3(CBLIF):c.290T>C (p.Met97Thr) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11619937 CV337713 NM_144596.4(TTC8):c.*238G>A variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 11620043 CV337353 NM_014339.7(IL17RA):c.*1113C>G variant EFO:0008175 interleukin 17 receptor A measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 11620130 CV343030 NM_002386.3(MC1R):c.-445G>A variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39537608 11620768 CV343377 NM_000304.4(PMP22):c.*228G>A variant EFO:0004682 QT interval IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36050321 11620816 CV331144 NM_004064.5(CDKN1B):c.*501G>A variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11620816 CV331144 NM_004064.5(CDKN1B):c.*501G>A variant EFO:MONDO:0007915 systemic lupus erythematosus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33272962 11620917 CV339409 NM_001321120.2(TBX4):c.17G>C (p.Gly6Ala) variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11620917 CV339409 NM_001321120.2(TBX4):c.17G>C (p.Gly6Ala) variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11620927 CV331059 NM_006329.4(FBLN5):c.-414C>T variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11620946 CV331279 NM_139057.4(ADAMTS17):c.1337C>T (p.Thr446Ile) variant EFO:0004143 carpal tunnel syndrome IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30833571 11620946 CV331279 NM_139057.4(ADAMTS17):c.1337C>T (p.Thr446Ile) variant EFO:0004338 body weight IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11620946 CV331279 NM_139057.4(ADAMTS17):c.1337C>T (p.Thr446Ile) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28552196 11620946 CV331279 NM_139057.4(ADAMTS17):c.1337C>T (p.Thr446Ile) variant EFO:0004341 body fat distribution IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30664634 11620946 CV331279 NM_139057.4(ADAMTS17):c.1337C>T (p.Thr446Ile) variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31761296 11620946 CV331279 NM_139057.4(ADAMTS17):c.1337C>T (p.Thr446Ile) variant EFO:0005213 central corneal thickness IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31798171 11620946 CV331279 NM_139057.4(ADAMTS17):c.1337C>T (p.Thr446Ile) variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11620946 CV331279 NM_139057.4(ADAMTS17):c.1337C>T (p.Thr446Ile) variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11620946 CV331279 NM_139057.4(ADAMTS17):c.1337C>T (p.Thr446Ile) variant EFO:0010067 corneal resistance factor IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31246245 11621111 CV335056 NM_006493.4(CLN5):c.*292G>A variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11621211 CV335851 NM_000782.5(CYP24A1):c.744G>A (p.Thr248=) variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11621211 CV335851 NM_000782.5(CYP24A1):c.744G>A (p.Thr248=) variant EFO:0004631 vitamin D measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11621211 CV335851 NM_000782.5(CYP24A1):c.744G>A (p.Thr248=) variant EFO:0004838 calcium measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11621211 CV335851 NM_000782.5(CYP24A1):c.744G>A (p.Thr248=) variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11621235 CV334281 NM_001077446.4(TSEN34):c.*245A>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11621267 CV341931 NM_005236.3(ERCC4):c.*3195G>A variant EFO:0004570 bilirubin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:22085899 11621523 CV331826 NM_000070.3(CAPN3):c.-104G>C variant EFO:0005091 monocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11621523 CV331826 NM_000070.3(CAPN3):c.-104G>C variant EFO:0007989 monocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11621523 CV331826 NM_000070.3(CAPN3):c.-104G>C variant EFO:0007997 granulocyte percentage of myeloid white cells IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11621560 CV329014 NM_000212.3(ITGB3):c.*2327G>A variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38064665 11621615 CV337332 NM_014339.7(IL17RA):c.2160C>T (p.Pro720=) variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11621615 CV337332 NM_014339.7(IL17RA):c.2160C>T (p.Pro720=) variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11621631 CV337995 NM_000286.3(PEX12):c.*517A>G variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11621631 CV337995 NM_000286.3(PEX12):c.*517A>G variant EFO:0005047 obsolete_erythrocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 11621631 CV337995 NM_000286.3(PEX12):c.*517A>G variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28957414 11621631 CV337995 NM_000286.3(PEX12):c.*517A>G variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11621631 CV337995 NM_000286.3(PEX12):c.*517A>G variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 11621631 CV337995 NM_000286.3(PEX12):c.*517A>G variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11621740 CV341082 NM_003321.5(TUFM):c.*300T>G variant EFO:0010155 taste liking measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35585065 11621814 CV339585 NM_001018004.2(TPM1):c.*119T>C variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11621814 CV339585 NM_001018004.2(TPM1):c.*119T>C variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11621929 CV337683 NM_001369369.1(FOXN1):c.1135+8C>T variant EFO:MONDO:0020592 disorder of pharynx IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36653354 11622186 CV337291 NM_014339.7(IL17RA):c.551-9G>T variant EFO:0008175 interleukin 17 receptor A measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 11622287 CV326320 NM_002076.4(GNS):c.*269C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37106081 11622390 CV341249 NM_001330.3(CTF1):c.*766T>C variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11622710 CV330306 NM_001113491.2(SEPTIN9):c.*657T>C variant EFO:MONDO:0005129 cataract IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34127677 11622770 CV334260 NM_015629.4(PRPF31):c.1147-9C>G variant EFO:0010230 phosphatidylinositol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 11622961 CV333082 NM_014270.5(SLC7A9):c.399C>T (p.Ser133=) variant EFO:0010474 cystathionine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 11623057 CV330777 NM_005996.4(TBX3):c.-184C>T variant EFO:0008336 disease progression measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30794219 11623057 CV330777 NM_005996.4(TBX3):c.-184C>T variant EFO:0009761 periprosthetic osteolysis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30794219 11623059 CV338951 NM_004287.5(GOSR2):c.*1115G>A variant EFO:MONDO:0100096 COVID-19 IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39361370 11623213 CV333580 NM_001846.4(COL4A2):c.1008C>T (p.Pro336=) variant EFO:0009718 peak expiratory flow IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36914875 11623307 CV335556 NM_001126106.4(SLC7A7):c.-263G>C variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30297969 11623358 CV343500 NM_000078.3(CETP):c.44C>G (p.Ala15Gly) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 11623358 CV343500 NM_000078.3(CETP):c.44C>G (p.Ala15Gly) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29404214 11623464 CV333429 NM_000875.5(IGF1R):c.*4391C>T variant EFO:0009718 peak expiratory flow IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36914875 11623561 CV335564 NM_001126106.4(SLC7A7):c.-281T>C variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11623583 CV337965 NM_000295.5(SERPINA1):c.*224G>A variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11623583 CV337965 NM_000295.5(SERPINA1):c.*224G>A variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11623583 CV337965 NM_000295.5(SERPINA1):c.*224G>A variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11623583 CV337965 NM_000295.5(SERPINA1):c.*224G>A variant EFO:0008589 esterified cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 11623583 CV337965 NM_000295.5(SERPINA1):c.*224G>A variant EFO:0801638 glutathione S-transferase Mu 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11623583 CV337965 NM_000295.5(SERPINA1):c.*224G>A variant EFO:0801776 lysosomal acid phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11623645 CV326915 NM_002386.4(MC1R):c.*581A>G variant EFO:0000389 cutaneous melanoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32341527 11623814 CV335543 NM_000078.3(CETP):c.1215-14C>T variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28334899 11623921 CV330186 NM_000618.5(IGF1):c.*2364A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11624075 CV343513 NM_017827.4(SARS2):c.321G>A (p.Glu107=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11624093 CV341869 NM_001080467.3(MYO5B):c.176T>C (p.Leu59Pro) variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11624544 CV332071 NM_001363711.2(DUOX2):c.*722G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11624746 CV326602 NM_020686.6(ABAT):c.*2304T>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11624854 CV324643 NM_001164277.1(SLC37A4):c.-755T>A variant EFO:0004535 obsolete_serum albumin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11625041 CV335245 NM_006892.4(DNMT3B):c.1760-5C>G variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11625293 CV339544 NM_000236.3(LIPC):c.283G>A (p.Val95Met) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35884923 11625308 CV343020 NM_002386.3(MC1R):c.-928A>G variant EFO:0800122 cys-gly, oxidized measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 11625386 CV327497 NM_002615.7(SERPINF1):c.644-14A>T variant EFO:0021847 pigment epithelium-derived factor measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 11625418 CV325675 NM_001080432.3(FTO):c.400G>A (p.Ala134Thr) variant EFO:0004233 leukopenia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27558924 11625418 CV325675 NM_001080432.3(FTO):c.400G>A (p.Ala134Thr) variant EFO:OBA:2040051 trait in response to thiopurine IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27558924 11625442 CV328256 NM_000458.4(HNF1B):c.*924C>G variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30297969 11625451 CV341332 NM_003041.4(SLC5A2):c.1145T>C (p.Met382Thr) variant EFO:HP:0003076 Glycosuria IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30476138 11625482 CV337689 NM_001369369.1(FOXN1):c.1795G>C (p.Ala599Pro) variant EFO:0007620 volumetric bone mineral density IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31790847 11625776 CV325938 NM_000078.3(CETP):c.1403G>A (p.Arg468Gln) variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 11625776 CV325938 NM_000078.3(CETP):c.1403G>A (p.Arg468Gln) variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 11625776 CV325938 NM_000078.3(CETP):c.1403G>A (p.Arg468Gln) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11625776 CV325938 NM_000078.3(CETP):c.1403G>A (p.Arg468Gln) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11625776 CV325938 NM_000078.3(CETP):c.1403G>A (p.Arg468Gln) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11625776 CV325938 NM_000078.3(CETP):c.1403G>A (p.Arg468Gln) variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11625776 CV325938 NM_000078.3(CETP):c.1403G>A (p.Arg468Gln) variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11625910 CV331201 NM_177438.3(DICER1):c.*2693A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11625910 CV331201 NM_177438.3(DICER1):c.*2693A>G variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36581621 11625937 CV328907 NM_000618.5(IGF1):c.*6093G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11625957 CV343600 NM_002615.7(SERPINF1):c.395C>G (p.Pro132Arg) variant EFO:MONDO:0100096 COVID-19 IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35224516 11626065 CV330279 NM_001113491.2(SEPTIN9):c.434C>T (p.Pro145Leu) variant EFO:0004464 obsolete_brain measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34910505 11626065 CV330279 NM_001113491.2(SEPTIN9):c.434C>T (p.Pro145Leu) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11626065 CV330279 NM_001113491.2(SEPTIN9):c.434C>T (p.Pro145Leu) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11626212 CV328308 NM_020376.4(PNPLA2):c.*248A>G variant EFO:Orphanet:98974 Fuchs endothelial corneal dystrophy IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38582945 11626459 CV345999 NM_004870.3(MPDU1):c.-73A>G variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24049095 11626459 CV345999 NM_004870.3(MPDU1):c.-73A>G variant EFO:0004908 testosterone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24049095 11626461 CV350495 NM_000208.4(INSR):c.*2854G>T variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33097823 11626509 CV352043 NM_014339.7(IL17RA):c.1458C>T (p.Ile486=) variant EFO:0005091 monocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11626547 CV349523 NM_000208.4(INSR):c.2595C>T (p.Asn865=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11626592 CV352387 NM_000355.4(TCN2):c.509G>A (p.Arg170Gln) variant EFO:MONDO:0016820 Moyamoya disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29273593 11626605 CV344720 NM_000342.4(SLC4A1):c.*333C>A variant EFO:0007990 neutrophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11626605 CV344720 NM_000342.4(SLC4A1):c.*333C>A variant EFO:0007993 lymphocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11626797 CV350452 NM_000064.4(C3):c.2203C>T (p.Arg735Trp) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11627019 CV345778 NM_000747.3(CHRNB1):c.*68T>C variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11627019 CV345778 NM_000747.3(CHRNB1):c.*68T>C variant EFO:0004908 testosterone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11627094 CV351373 NM_000343.4(SLC5A1):c.152A>G (p.Asn51Ser) variant EFO:0004307 glucose tolerance test IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29093273 11627094 CV351373 NM_000343.4(SLC5A1):c.152A>G (p.Asn51Ser) variant EFO:0008465 glucagon-like peptide-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29093273 11627126 CV345596 NM_002591.4(PCK1):c.69A>G (p.Leu23=) variant EFO:0007929 triglyceride:HDL cholesterol ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38200128 11627207 CV351020 NM_014339.7(IL17RA):c.958T>C (p.Trp320Arg) variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11627207 CV351020 NM_014339.7(IL17RA):c.958T>C (p.Trp320Arg) variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11627207 CV351020 NM_014339.7(IL17RA):c.958T>C (p.Trp320Arg) variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11627207 CV351020 NM_014339.7(IL17RA):c.958T>C (p.Trp320Arg) variant EFO:0005091 monocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11627207 CV351020 NM_014339.7(IL17RA):c.958T>C (p.Trp320Arg) variant EFO:0007989 monocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11627207 CV351020 NM_014339.7(IL17RA):c.958T>C (p.Trp320Arg) variant EFO:0007991 eosinophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11627207 CV351020 NM_014339.7(IL17RA):c.958T>C (p.Trp320Arg) variant EFO:0007993 lymphocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11627207 CV351020 NM_014339.7(IL17RA):c.958T>C (p.Trp320Arg) variant EFO:0007997 granulocyte percentage of myeloid white cells IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11627276 CV349449 NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) variant EFO:OBA:2042659 level of cytosolic Fe-S cluster assembly factor NUBP2 in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 11627977 CV348031 NM_025225.3(PNPLA3):c.*63C>T variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36974753 11627977 CV348031 NM_025225.3(PNPLA3):c.*63C>T variant EFO:0005921 FEV change measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35611668 11627977 CV348031 NM_025225.3(PNPLA3):c.*63C>T variant EFO:0008111 diet measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36974753 11627977 CV348031 NM_025225.3(PNPLA3):c.*63C>T variant EFO:MONDO:0004790 fatty liver disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35611668 11627986 CV352494 NM_133642.5(LARGE1):c.-177C>T variant EFO:0802578 glycosyltransferase-like protein LARGE1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0000182 hepatocellular carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34902334 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0001422 cirrhosis of liver IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33310085 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0003095 non-alcoholic fatty liver disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29271184 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0004274 gout IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33832965 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26690388 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0004570 bilirubin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333282 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32042192 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36974753 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0004735 serum alanine aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28090653 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33547301 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0004761 uric acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0004908 testosterone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34321204 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28957414 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0006845 liver disease biomarker IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32247823 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0007965 response to combination chemotherapy IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28090653 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0007985 platelet crit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0008111 diet measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36974753 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0008421 non-alcoholic fatty liver disease severity measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31311600 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28957414 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0009545 esophageal varices IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0010432 triacylglycerol 56:5 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37907536 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0010433 triacylglycerol 56:6 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37907536 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0010821 liver fat measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32247823 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0020067 diacylglycerol 38:5 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:0020946 phospholipids:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:1000802 alcoholic liver cirrhosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26482880 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29632382 11628341 CV352627 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) variant EFO:OBA:2020007 level of triacylglycerol (56:6) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36193934 11628547 CV352630 NM_025225.3(PNPLA3):c.*707T>C variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 11628600 CV352395 NM_000355.4(TCN2):c.1127T>C (p.Leu376Ser) variant EFO:0004620 vitamin B12 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23754956 11628717 CV344706 NM_000342.4(SLC4A1):c.*1568G>A variant EFO:0004838 calcium measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33887147 11628740 CV346571 NM_017777.4(MKS1):c.*322G>T variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11628740 CV346571 NM_017777.4(MKS1):c.*322G>T variant EFO:0007991 eosinophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11628822 CV344672 NM_000214.3(JAG1):c.*1132T>G variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11628822 CV344672 NM_000214.3(JAG1):c.*1132T>G variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11628822 CV344672 NM_000214.3(JAG1):c.*1132T>G variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11628835 CV344473 NM_000208.4(INSR):c.3033C>T (p.Tyr1011=) AND Insulin-resistant diabetes mellitus variant EFO:0004343 waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30239722 11628835 CV344473 NM_000208.4(INSR):c.3033C>T (p.Tyr1011=) AND Insulin-resistant diabetes mellitus variant EFO:0004467 insulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34059833 11628835 CV344473 NM_000208.4(INSR):c.3033C>T (p.Tyr1011=) AND Insulin-resistant diabetes mellitus variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11628835 CV344473 NM_000208.4(INSR):c.3033C>T (p.Tyr1011=) AND Insulin-resistant diabetes mellitus variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11629025 CV351190 NM_000782.5(CYP24A1):c.*50C>T variant EFO:0004617 cystatin C measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11629025 CV351190 NM_000782.5(CYP24A1):c.*50C>T variant EFO:0004631 vitamin D measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11629025 CV351190 NM_000782.5(CYP24A1):c.*50C>T variant EFO:0004838 calcium measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11629075 CV347054 NM_000346.4(SOX9):c.*811A>G variant EFO:0004748 obsolete_thyroid stimulating hormone measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39067062 11629162 CV346570 NM_000071.3(CBS):c.*544T>C variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11629249 CV351214 NM_002591.4(PCK1):c.453G>A (p.Ser151=) variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11629407 CV345070 NM_012452.3(TNFRSF13B):c.*414G>A variant EFO:0004535 obsolete_serum albumin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34321204 11629754 CV346513 NM_025099.6(CTC1):c.*631T>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11629866 CV344423 NM_002230.4(JUP):c.*623G>A variant EFO:0007621 bone mineral content measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34239500 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0001422 cirrhosis of liver IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31815349 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0001645 coronary artery disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35915156 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0003095 non-alcoholic fatty liver disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37709864 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0004274 gout IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39406924 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38658550 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34321204 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36974753 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0004735 serum alanine aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28090653 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0005689 non-high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0006807 linoleic acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0007965 response to combination chemotherapy IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28090653 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0007985 platelet crit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0007989 monocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0008111 diet measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36974753 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0022232 cholesterol to total lipids in chylomicrons and extremely large VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0022246 cholesteryl esters to total lipids in chylomicrons and extremely large VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0022277 free cholesterol to total lipids in chylomicrons and extremely large VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0022305 saturated fatty acids to total fatty acids percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:0022328 triglycerides to total lipids in chylomicrons and extremely large VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 11629968 CV352628 NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30297969 11629971 CV352619 NM_000262.3(NAGA):c.957+4C>G variant EFO:0008328 chronotype measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30804565 11629995 CV347327 NM_004870.4(MPDU1):c.*462C>T variant EFO:0004908 testosterone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32042192 11630094 CV352952 NM_153252.5(BRWD3):c.*6862T>C variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38233393 11630157 CV344289 NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys) variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39414775 11630157 CV344289 NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39414775 11630157 CV344289 NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39414775 11630157 CV344289 NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys) variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39414775 11630213 CV352414 NM_000343.4(SLC5A1):c.*1804T>C variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39537608 11630338 CV346969 NM_014339.7(IL17RA):c.152C>T (p.Thr51Met) variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11630338 CV346969 NM_014339.7(IL17RA):c.152C>T (p.Thr51Met) variant EFO:0007988 obsolete_myeloid white cell count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 11630397 CV350035 NM_001250.6(CD40):c.-1T>C variant EFO:0000685 rheumatoid arthritis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333501 11630397 CV350035 NM_001250.6(CD40):c.-1T>C variant EFO:0004246 mucocutaneous lymph node syndrome IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33106546 11630397 CV350035 NM_001250.6(CD40):c.-1T>C variant EFO:0007791 rheumatoid factor seropositivity measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333501 11630397 CV350035 NM_001250.6(CD40):c.-1T>C variant EFO:0007837 anti-citrullinated protein antibody seropositivity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333501 11630397 CV350035 NM_001250.6(CD40):c.-1T>C variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32929287 11630589 CV344950 NM_015443.4(KANSL1):c.673A>G (p.Asn225Asp) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32327693 11630601 CV348404 NM_005535.3(IL12RB1):c.1094T>C (p.Met365Thr) variant EFO:0008170 obsolete_interleukin 12 receptor subunit beta-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 11630601 CV348404 NM_005535.3(IL12RB1):c.1094T>C (p.Met365Thr) variant EFO:0801715 interleukin-12 receptor subunit beta-1 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36168886 11630858 CV346439 NM_000080.4(CHRNE):c.*144T>C variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36581621 11631166 CV351382 NM_000343.4(SLC5A1):c.1231G>A (p.Ala411Thr) variant EFO:0004307 glucose tolerance test IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29093273 11631166 CV351382 NM_000343.4(SLC5A1):c.1231G>A (p.Ala411Thr) variant EFO:0008464 glucose-dependent insulinotropic peptide measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29093273 11631186 CV349172 NM_001308210.2(TSHZ1):c.315C>T (p.Ser105=) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 11631186 CV349172 NM_001308210.2(TSHZ1):c.315C>T (p.Ser105=) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 11631188 CV347008 NM_014339.7(IL17RA):c.*1310A>G variant EFO:0005091 monocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11631287 CV349956 NM_000483.5(APOC2):c.*306C>T variant EFO:0803295 PH and SEC7 domain-containing protein 2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11631506 CV351218 NM_002591.4(PCK1):c.550G>C (p.Val184Leu) variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11631516 CV352122 NM_014339.7(IL17RA):c.*5205C>A variant EFO:0008175 interleukin 17 receptor A measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28240269 11631658 CV347574 NM_001113491.2(SEPTIN9):c.*40A>T variant EFO:0009282 sodium measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35121771 11631694 CV352809 NM_171998.4(RAB39B):c.*1813C>A variant EFO:0010117 pyruvate measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38964323 11632037 CV346314 NM_004287.5(GOSR2):c.*1067G>A variant EFO:0009931 Agents acting on the renin-angiotensin system use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31015401 11632157 CV344845 NM_001377265.1(MAPT):c.*26T>C variant EFO:MONDO:0019037 progressive supranuclear palsy IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39251599 11632183 CV345410 NM_178170.3(NEK8):c.*388C>T variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11632184 CV344611 NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln) variant EFO:0004143 carpal tunnel syndrome IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30833571 11632184 CV344611 NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln) variant EFO:0004312 vital capacity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36914875 11632184 CV344611 NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln) variant EFO:0004324 body weights and measures IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30166351 11632184 CV344611 NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln) variant EFO:0004338 body weight IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11632184 CV344611 NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28552196 11632184 CV344611 NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln) variant EFO:0004341 body fat distribution IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30664634 11632184 CV344611 NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln) variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33097823 11632184 CV344611 NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln) variant EFO:0004995 lean body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 11632184 CV344611 NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln) variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11632184 CV344611 NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln) variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11632184 CV344611 NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln) variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11632242 CV347097 NM_000346.4(SOX9):c.*1580G>A variant EFO:0004748 obsolete_thyroid stimulating hormone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32769997 11632250 CV350896 NM_006892.4(DNMT3B):c.*443C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11633102 CV329048 NM_012309.5(SHANK2):c.136G>A (p.Gly46Ser) variant EFO:0000183 Hodgkins lymphoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34216518 11633640 CV314022 NM_000102.4(CYP17A1):c.-34T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11633771 CV314017 NM_000102.4(CYP17A1):c.195G>T (p.Ser65=) variant EFO:0004342 obsolete_waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25673412 11633771 CV314017 NM_000102.4(CYP17A1):c.195G>T (p.Ser65=) variant EFO:0005093 obsolete_hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25673412 11633772 CV316030 NM_003640.5(ELP1):c.-301C>G variant EFO:0004784 self reported educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30038396 11633772 CV316030 NM_003640.5(ELP1):c.-301C>G variant EFO:0004875 mathematical ability IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30038396 11634356 CV354162 NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) variant EFO:HP:0000790 Hematuria IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30476138 11634553 CV321407 NM_001040108.1(MLH3):c.-204G>A variant EFO:OBA:2040493 level of acylphosphatase-1 in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 11634581 CV323905 NM_139057.4(ADAMTS17):c.*510C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35831902 11635212 CV333577 NM_139057.4(ADAMTS17):c.*1449G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25282103 11635292 CV341746 NM_139057.4(ADAMTS17):c.3281A>G (p.Asn1094Ser) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11635948 CV268279 NM_020223.4(FAM20C):c.1672C>T (p.Arg558Trp) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11637349 CV271335 NM_003331.5(TYK2):c.2783C>T (p.Ala928Val) variant EFO:0000685 rheumatoid arthritis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35470158 11637349 CV271335 NM_003331.5(TYK2):c.2783C>T (p.Ala928Val) variant EFO:0007791 rheumatoid factor seropositivity measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35470158 11637349 CV271335 NM_003331.5(TYK2):c.2783C>T (p.Ala928Val) variant EFO:0007985 platelet crit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11637349 CV271335 NM_003331.5(TYK2):c.2783C>T (p.Ala928Val) variant EFO:0007993 lymphocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11637349 CV271335 NM_003331.5(TYK2):c.2783C>T (p.Ala928Val) variant EFO:0009459 ACPA-positive rheumatoid arthritis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35470158 11638358 CV271484 NM_001277313.2(FMN1):c.2929G>A (p.Glu977Lys) variant EFO:0007825 balding measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30573740 11638501 CV275433 NM_001206979.2(NR1H4):c.518T>C (p.Met173Thr) variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11638501 CV275433 NM_001206979.2(NR1H4):c.518T>C (p.Met173Thr) variant EFO:0004908 testosterone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32042192 11640925 CV265345 NM_017617.5(NOTCH1):c.2588-4G>A variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11640925 CV265345 NM_017617.5(NOTCH1):c.2588-4G>A variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 11641481 CV272571 NM_001015880.2(PAPSS2):c.28G>A (p.Glu10Lys) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11642428 CV268045 NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu) variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 11642790 CV269657 NM_012254.3(SLC27A5):c.1616T>C (p.Met539Thr) variant EFO:0800348 3b-hydroxy-5-cholenoic acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 11643916 CV270752 NM_022367.4(SEMA4A):c.2044C>T (p.Pro682Ser) variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38632349 11645398 CV300783 NM_003060.4(SLC22A5):c.-207C>G variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11645398 CV300783 NM_003060.4(SLC22A5):c.-207C>G variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11645398 CV300783 NM_003060.4(SLC22A5):c.-207C>G variant EFO:0004995 lean body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 11645398 CV300783 NM_003060.4(SLC22A5):c.-207C>G variant EFO:0005091 monocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 11645398 CV300783 NM_003060.4(SLC22A5):c.-207C>G variant EFO:0021038 acetylcarnitine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11645398 CV300783 NM_003060.4(SLC22A5):c.-207C>G variant EFO:0021040 hexanoylcarnitine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11645398 CV300783 NM_003060.4(SLC22A5):c.-207C>G variant EFO:0021044 palmitoylcarnitine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11645398 CV300783 NM_003060.4(SLC22A5):c.-207C>G variant EFO:0800538 linolenoylcarnitine (C18:3) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 11645829 CV309860 NM_018718.3(CEP41):c.*4037A>G variant EFO:0008003 heart rate variability measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29064910 11645829 CV309860 NM_018718.3(CEP41):c.*4037A>G variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11645829 CV309860 NM_018718.3(CEP41):c.*4037A>G variant EFO:GO:0097332 response to antipsychotic drug IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29064910 11647946 CV285272 NM_000210.4(ITGA6):c.1138G>A (p.Ala380Thr) variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35935937 11651003 CV317479 NM_019892.6(INPP5E):c.*703A>G variant EFO:0004536 total blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11651754 CV309286 NM_016169.4(SUFU):c.*1122C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11651754 CV309286 NM_016169.4(SUFU):c.*1122C>T variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11651836 CV323162 NM_000314.8(PTEN):c.*1516T>C variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11652925 CV305624 NM_017780.4(CHD7):c.-380C>T variant EFO:0004464 obsolete_brain measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34910505 11653986 CV319883 NM_016169.4(SUFU):c.*2668C>T variant EFO:0004713 FEV/FVC ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36914875 11653986 CV319883 NM_016169.4(SUFU):c.*2668C>T variant EFO:0008264 obsolete_platelet-derived growth factor bb measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33067605 11653986 CV319883 NM_016169.4(SUFU):c.*2668C>T variant EFO:0010620 dickkopf‐related protein 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33067605 11654888 CV311884 NM_019892.6(INPP5E):c.*816A>G variant EFO:0004995 lean body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 11654888 CV311884 NM_019892.6(INPP5E):c.*816A>G variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11658250 CV300804 NM_003060.4(SLC22A5):c.*843T>C variant EFO:0800090 N,N,N-trimethyl-5-aminovalerate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 11660632 CV305281 NM_014141.5(CNTNAP2):c.-115G>A variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11662889 CV344811 NM_002055.5(GFAP):c.*630G>A variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 11663479 CV309694 NM_018718.3(CEP41):c.*4295G>C variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 11665047 CV313506 NM_177924.5(ASAH1):c.*1073C>T variant EFO:0000275 atrial fibrillation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28416818 11665047 CV313506 NM_177924.5(ASAH1):c.*1073C>T variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 11665080 CV330900 NM_153026.3(PRICKLE1):c.*1394G>A variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38658550 11665195 CV334436 NM_001199107.2(TBC1D24):c.*1575C>T variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11665291 CV306818 NM_001710.6(CFB):c.504G>A (p.Pro168=) variant EFO:0008096 complement factor B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28240269 11665291 CV306818 NM_001710.6(CFB):c.504G>A (p.Pro168=) variant EFO:0802444 cysteine and glycine-rich protein 2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11665305 CV333546 NM_001846.4(COL4A2):c.-203T>C variant EFO:0004536 total blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11665432 CV333543 NM_001846.4(COL4A2):c.-277A>C variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28135244 11665432 CV333543 NM_001846.4(COL4A2):c.-277A>C variant EFO:0007013 aspirin use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11665432 CV333543 NM_001846.4(COL4A2):c.-277A>C variant EFO:0009925 Antithrombotic agent use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11665432 CV333543 NM_001846.4(COL4A2):c.-277A>C variant EFO:HP:0002140 Ischemic stroke IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 11665521 CV307093 NM_000063.6(C2):c.1922T>C (p.Val641Ala) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11665540 CV351941 NM_001849.4(COL6A2):c.*158C>T variant EFO:0010067 corneal resistance factor IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35446358 11665569 CV353604 NM_000355.3(TCN2):c.-250C>T variant EFO:0007874 gut microbiome measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33208821 11665569 CV353604 NM_000355.3(TCN2):c.-250C>T variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11665569 CV353604 NM_000355.3(TCN2):c.-250C>T variant EFO:0802139 transcobalamin-2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 11665607 CV307117 NM_001710.6(CFB):c.1137C>T (p.Arg379=) variant EFO:0007990 neutrophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 11665648 CV288959 NM_024334.3(TMEM43):c.*463A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11665660 CV293234 NM_001042424.3(NSD2):c.*2920A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11665756 CV303255 NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) variant EFO:0007864 sulfate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 11665766 CV299810 NM_001710.6(CFB):c.754G>A (p.Gly252Ser) variant EFO:0003966 eye disease IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38490347 11665927 CV317304 NM_003482.3(KMT2D):c.*2077G>A variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 11665927 CV317304 NM_003482.3(KMT2D):c.*2077G>A variant EFO:0008328 chronotype measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30696823 11666125 CV309611 NM_001099667.3(ARMS2):c.298-13A>G variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39537608 11666504 CV292911 NM_024334.3(TMEM43):c.*719G>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 11666517 CV346306 NM_000152.5(GAA):c.-260G>C variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11666517 CV346306 NM_000152.5(GAA):c.-260G>C variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 11666528 CV318983 NM_018400.3(SCN3B):c.*2178T>A variant EFO:MONDO:0005575 colorectal cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 11666556 CV319057 NM_019616.4(F7):c.*770G>A variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 11666608 CV353667 NM_000509.5(FGG):c.*216C>T variant EFO:0003827 pulmonary embolism IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37076872 11666608 CV353667 NM_000509.5(FGG):c.*216C>T variant EFO:0004286 venous thromboembolism IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25772935 11666668 CV278588 NM_005216.5(DDOST):c.315C>T (p.Gly105=) variant EFO:0800645 cytidine measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528826 11666714 CV293046 NM_014043.4(CHMP2B):c.*1589G>A variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 11666792 CV316779 NM_000113.3(TOR1A):c.*191G>T variant EFO:0001663 prostate carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29892016 11666822 CV353171 NM_016952.4(CDON):c.*4135C>T variant EFO:GO:0044691 tooth eruption IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23704328 11666926 CV328813 NM_001377265.1(MAPT):c.*1047C>T variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32778093 126726926 CV973143 NM_003126.4(SPTA1):c.4339-99C>T variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 126726926 CV973143 NM_003126.4(SPTA1):c.4339-99C>T variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 126726926 CV973143 NM_003126.4(SPTA1):c.4339-99C>T variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 126726926 CV973143 NM_003126.4(SPTA1):c.4339-99C>T variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 126726926 CV973143 NM_003126.4(SPTA1):c.4339-99C>T variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 126726926 CV973143 NM_003126.4(SPTA1):c.4339-99C>T variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 126738565 CV1000165 NM_000261.2(MYOC):c.1058C>T (p.Thr353Ile) variant EFO:0004346 neuroimaging measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38811844 126742394 CV1021388 NM_002666.5(PLIN1):c.269T>C (p.Leu90Pro) variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35999217 126746256 CV1015402 NM_014883.4(FAM13A):c.605+25827G>A variant EFO:0000341 chronic obstructive pulmonary disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35308900 126746256 CV1015402 NM_014883.4(FAM13A):c.605+25827G>A variant EFO:0004314 forced expiratory volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 126746256 CV1015402 NM_014883.4(FAM13A):c.605+25827G>A variant EFO:0004713 FEV/FVC ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 126746256 CV1015402 NM_014883.4(FAM13A):c.605+25827G>A variant EFO:GO:0097366 response to bronchodilator IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 126746260 CV1015401 NM_014883.4(FAM13A):c.606-24587G>A variant EFO:0004314 forced expiratory volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 126746260 CV1015401 NM_014883.4(FAM13A):c.606-24587G>A variant EFO:0004713 FEV/FVC ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 126746260 CV1015401 NM_014883.4(FAM13A):c.606-24587G>A variant EFO:0020693 pulmonary surfactant-associated protein d measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 126746260 CV1015401 NM_014883.4(FAM13A):c.606-24587G>A variant EFO:GO:0097366 response to bronchodilator IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 126746269 CV1015405 NM_003357.5(SCGB1A1):c.-26G>A variant EFO:0000341 chronic obstructive pulmonary disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23144326 126746269 CV1015405 NM_003357.5(SCGB1A1):c.-26G>A variant EFO:0005080 CC16 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23144326 126746269 CV1015405 NM_003357.5(SCGB1A1):c.-26G>A variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 126748830 CV1003579 NM_003151.4(STAT4):c.383A>T (p.Glu128Val) variant EFO:0000685 rheumatoid arthritis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35470158 126748830 CV1003579 NM_003151.4(STAT4):c.383A>T (p.Glu128Val) variant EFO:0007791 rheumatoid factor seropositivity measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35470158 126748830 CV1003579 NM_003151.4(STAT4):c.383A>T (p.Glu128Val) variant EFO:0009459 ACPA-positive rheumatoid arthritis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35470158 126761759 CV987178 NM_001006658.3(CR2):c.167G>A (p.Arg56His) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32929287 126909769 CV1036919 NC_000006.12:g.31575324G>A variant EFO:0000384 Crohn's disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37262302 126909769 CV1036919 NC_000006.12:g.31575324G>A variant EFO:0008343 sex interaction measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37262302 126911544 CV1036965 NM_000567.3(CRP):c.176C>T (p.Thr59Met) variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 126911761 CV1037304 NM_199420.4(POLQ):c.4141C>A (p.Pro1381Thr) variant EFO:1000886 cutaneous mastocytosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32752121 126912699 CV1037525 NM_080683.3(PTPN13):c.7142C>T (p.Thr2381Ile) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 126912850 CV1038614 NM_000789.4(ACE):c.209C>T (p.Ala70Val) variant EFO:0000183 Hodgkins lymphoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34216518 126920955 CV1042493 NM_017491.5(WDR1):c.512C>T (p.Ala171Val) variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 127231664 CV1087485 NM_001368809.2(AMPD2):c.82G>A (p.Ala28Thr) variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 127231844 CV1087611 NM_177973.2(SULT2B1):c.637C>T (p.Leu213=) variant EFO:0009092 obsolete_breast milk measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39232002 127231868 CV1087608 NM_001369268.1(ACAN):c.7233C>G (p.Asp2411Glu) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36224396 127231868 CV1087608 NM_001369268.1(ACAN):c.7233C>G (p.Asp2411Glu) variant EFO:0004341 body fat distribution IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30664634 127231868 CV1087608 NM_001369268.1(ACAN):c.7233C>G (p.Asp2411Glu) variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31761296 127231868 CV1087608 NM_001369268.1(ACAN):c.7233C>G (p.Asp2411Glu) variant EFO:0005409 obsolete_fat body mass IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38538606 127231868 CV1087608 NM_001369268.1(ACAN):c.7233C>G (p.Asp2411Glu) variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34021172 127231868 CV1087608 NM_001369268.1(ACAN):c.7233C>G (p.Asp2411Glu) variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34021172 127245829 CV1079080 NM_001093.4(ACACB):c.3845A>G (p.Tyr1282Cys) variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 127245829 CV1079080 NM_001093.4(ACACB):c.3845A>G (p.Tyr1282Cys) variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 127245829 CV1079080 NM_001093.4(ACACB):c.3845A>G (p.Tyr1282Cys) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 127245829 CV1079080 NM_001093.4(ACACB):c.3845A>G (p.Tyr1282Cys) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 127245829 CV1079080 NM_001093.4(ACACB):c.3845A>G (p.Tyr1282Cys) variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 127245829 CV1079080 NM_001093.4(ACACB):c.3845A>G (p.Tyr1282Cys) variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 127274820 CV1069324 NM_000541.5(SAG):c.35C>T (p.Pro12Leu) variant EFO:0004570 bilirubin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 127287165 CV1152202 NM_000301.5(PLG):c.514A>G (p.Arg172Gly) variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 127287165 CV1152202 NM_000301.5(PLG):c.514A>G (p.Arg172Gly) variant EFO:0006925 lipoprotein A measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 127290166 CV1154604 NM_001004356.3(FGFRL1):c.1085C>A (p.Pro362Gln) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127290400 CV1155315 NM_000410.4(HFE):c.1007-47G>A variant EFO:0005230 anxiety IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29942085 127290468 CV1155871 NM_017570.5(OPLAH):c.2832C>T (p.Tyr944=) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 127290578 CV1156672 NM_000360.4(TH):c.1334+127T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 127290974 CV1154379 NM_003722.5(TP63):c.62+6895T>C variant EFO:0000571 lung adenocarcinoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39366959 127290974 CV1154379 NM_003722.5(TP63):c.62+6895T>C variant EFO:0001071 lung carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:21725308 127291268 CV227585 NM_022836.4(DCLRE1B):c.181C>T (p.His61Tyr) variant EFO:0000305 breast carcinoma IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:23535729 127291268 CV227585 NM_022836.4(DCLRE1B):c.181C>T (p.His61Tyr) variant EFO:0000612 myocardial infarction IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 127291379 CV883615 NM_000384.3(APOB):c.6936C>T (p.Asp2312=) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25961943 127291379 CV883615 NM_000384.3(APOB):c.6936C>T (p.Asp2312=) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 127291379 CV883615 NM_000384.3(APOB):c.6936C>T (p.Asp2312=) variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 127291379 CV883615 NM_000384.3(APOB):c.6936C>T (p.Asp2312=) variant EFO:0008317 obsolete_vldl cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 127291379 CV883615 NM_000384.3(APOB):c.6936C>T (p.Asp2312=) variant EFO:0020945 free cholesterol:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 127291379 CV883615 NM_000384.3(APOB):c.6936C>T (p.Asp2312=) variant EFO:0022156 total lipids in very small VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 127291784 CV1155881 NM_017570.5(OPLAH):c.1018G>A (p.Val340Ile) variant EFO:0010988 5-oxoproline measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 127291794 CV1155886 NM_017570.5(OPLAH):c.92G>A (p.Arg31Gln) variant EFO:0022132 X-24512 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 127292572 CV1159158 NM_000878.5(IL2RB):c.1173C>A (p.Asp391Glu) variant EFO:0006946 behavioural disinhibition measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30718321 127292577 CV1159201 NM_020831.6(MRTFA):c.1181+10C>T variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 127292577 CV1159201 NM_020831.6(MRTFA):c.1181+10C>T variant EFO:0009718 peak expiratory flow IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36914875 127292744 CV1162094 NM_020469.3(ABO):c.28+1179T>C variant EFO:0004520 ICAM-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:18604267 127292744 CV1162094 NM_020469.3(ABO):c.28+1179T>C variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29507422 127292744 CV1162094 NM_020469.3(ABO):c.28+1179T>C variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29507422 127292744 CV1162094 NM_020469.3(ABO):c.28+1179T>C variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35213538 127292744 CV1162094 NM_020469.3(ABO):c.28+1179T>C variant EFO:0004732 lipoprotein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35213538 127292744 CV1162094 NM_020469.3(ABO):c.28+1179T>C variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27841878 127292744 CV1162094 NM_020469.3(ABO):c.28+1179T>C variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27841878 127292744 CV1162094 NM_020469.3(ABO):c.28+1179T>C variant EFO:0008317 obsolete_vldl cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35213538 127292744 CV1162094 NM_020469.3(ABO):c.28+1179T>C variant EFO:0008591 free cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35213538 127292744 CV1162094 NM_020469.3(ABO):c.28+1179T>C variant EFO:0008595 intermediate density lipoprotein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35213538 127292744 CV1162094 NM_020469.3(ABO):c.28+1179T>C variant EFO:0010117 pyruvate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35213538 127292744 CV1162094 NM_020469.3(ABO):c.28+1179T>C variant EFO:0010118 sphingomyelin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35213538 127292744 CV1162094 NM_020469.3(ABO):c.28+1179T>C variant EFO:0020944 cholesteryl esters:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35213538 127292744 CV1162094 NM_020469.3(ABO):c.28+1179T>C variant EFO:0020945 free cholesterol:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35213538 127292744 CV1162094 NM_020469.3(ABO):c.28+1179T>C variant EFO:0020946 phospholipids:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35213538 127292747 CV1162095 NM_020469.3(ABO):c.28+748T>C variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32203549 127292747 CV1162095 NM_020469.3(ABO):c.28+748T>C variant EFO:0020008 campesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 127292747 CV1162095 NM_020469.3(ABO):c.28+748T>C variant EFO:0020102 circulating alpha-Klotho measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34542150 127292749 CV1162096 NM_020469.3(ABO):c.29-4288A>G variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 127292749 CV1162096 NM_020469.3(ABO):c.29-4288A>G variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 127292749 CV1162096 NM_020469.3(ABO):c.29-4288A>G variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32203549 127292749 CV1162096 NM_020469.3(ABO):c.29-4288A>G variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39414775 127292749 CV1162096 NM_020469.3(ABO):c.29-4288A>G variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29507422 127292749 CV1162096 NM_020469.3(ABO):c.29-4288A>G variant EFO:0004575 obsolete_leukocyte-endothelial cell adhesion molecule 2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35264221 127292749 CV1162096 NM_020469.3(ABO):c.29-4288A>G variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29507422 127292749 CV1162096 NM_020469.3(ABO):c.29-4288A>G variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35213538 127292749 CV1162096 NM_020469.3(ABO):c.29-4288A>G variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33547301 127292749 CV1162096 NM_020469.3(ABO):c.29-4288A>G variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34469753 127292749 CV1162096 NM_020469.3(ABO):c.29-4288A>G variant EFO:0007929 triglyceride:HDL cholesterol ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38200128 127292749 CV1162096 NM_020469.3(ABO):c.29-4288A>G variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 127292749 CV1162096 NM_020469.3(ABO):c.29-4288A>G variant EFO:0008111 diet measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32193382 127292749 CV1162096 NM_020469.3(ABO):c.29-4288A>G variant EFO:0008317 obsolete_vldl cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35213538 127292749 CV1162096 NM_020469.3(ABO):c.29-4288A>G variant EFO:0008595 intermediate density lipoprotein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35213538 127292749 CV1162096 NM_020469.3(ABO):c.29-4288A>G variant EFO:0010351 cholesteryl ester measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35213538 127292749 CV1162096 NM_020469.3(ABO):c.29-4288A>G variant EFO:0010598 platelet endothelial cell adhesion molecule measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35264221 127292749 CV1162096 NM_020469.3(ABO):c.29-4288A>G variant EFO:0020943 cholesterol:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35213538 127292749 CV1162096 NM_020469.3(ABO):c.29-4288A>G variant EFO:0020944 cholesteryl esters:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35213538 127292749 CV1162096 NM_020469.3(ABO):c.29-4288A>G variant EFO:0020945 free cholesterol:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35213538 127292749 CV1162096 NM_020469.3(ABO):c.29-4288A>G variant EFO:0020946 phospholipids:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35213538 127292749 CV1162096 NM_020469.3(ABO):c.29-4288A>G variant EFO:0020947 triglycerides:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35213538 127293296 CV1158250 NM_198129.4(LAMA3):c.3622C>A (p.Pro1208Thr) variant EFO:0010128 obsolete_immunoglobulin isotype switching measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28628107 127293506 CV1157770 NM_004204.5(PIGQ):c.1532-15T>C variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 127293531 CV1154567 NM_001080517.3(SETD5):c.3923C>T (p.Thr1308Ile) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 127293575 CV1154478 NM_020347.4(LZTFL1):c.736G>A (p.Asp246Asn) variant EFO:MONDO:0005301 multiple sclerosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31604244 127293780 CV1157448 NM_014444.5(TUBGCP4):c.724-10C>A variant EFO:0009767 glycine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30837465 127293871 CV1154144 NM_022437.3(ABCG8):c.322+431T>C variant EFO:0000195 metabolic syndrome IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33893285 127293871 CV1154144 NM_022437.3(ABCG8):c.322+431T>C variant EFO:0020008 campesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 127293871 CV1154144 NM_022437.3(ABCG8):c.322+431T>C variant EFO:0021447 cholesteryl ester 24:4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 127293877 CV1157098 NM_001846.4(COL4A2):c.181-27458T>C variant EFO:0000612 myocardial infarction IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 127293877 CV1157098 NM_001846.4(COL4A2):c.181-27458T>C variant EFO:0003913 angina pectoris IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 127293877 CV1157098 NM_001846.4(COL4A2):c.181-27458T>C variant EFO:0004860 obsolete_common carotid intimal medial thickness IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39537608 127293885 CV1153215 NM_006623.4(PHGDH):c.138+2327T>C variant EFO:0004735 serum alanine aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28090653 127293885 CV1153215 NM_006623.4(PHGDH):c.138+2327T>C variant EFO:0007965 response to combination chemotherapy IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28090653 127293892 CV1154404 NM_018192.4(P3H2):c.481-61225G>A variant EFO:0000305 breast carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29059683 127293899 CV1154457 NM_003242.6(TGFBR2):c.95-1332C>T variant EFO:0000305 breast carcinoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29059683 127293931 CV1157080 NM_016122.3(CEP83):c.626G>A (p.Arg209Gln) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 127293931 CV1157080 NM_016122.3(CEP83):c.626G>A (p.Arg209Gln) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 127294151 CV1157705 NM_000632.4(ITGAM):c.230G>A (p.Arg77His) variant EFO:MONDO:0007915 systemic lupus erythematosus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26606652 127294161 CV1157707 NM_000632.4(ITGAM):c.704+10C>G variant EFO:MONDO:0007915 systemic lupus erythematosus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26502338 127294396 CV1159140 NM_000631.5(NCF4):c.32+1258T>C variant EFO:0000274 atopic eczema IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:22197932 127294396 CV1159140 NM_000631.5(NCF4):c.32+1258T>C variant EFO:0000384 Crohn's disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28067908 127294396 CV1159140 NM_000631.5(NCF4):c.32+1258T>C variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 127294396 CV1159140 NM_000631.5(NCF4):c.32+1258T>C variant EFO:0005090 basophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 127294417 CV1153431 NM_000572.3(IL10):c.378+284G>T variant EFO:0000729 ulcerative colitis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 127294417 CV1153431 NM_000572.3(IL10):c.378+284G>T variant EFO:MONDO:0007915 systemic lupus erythematosus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26502338 127294528 CV1156700 NM_004171.4(SLC1A2):c.603G>A (p.Pro201=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 127294761 CV1158057 NM_017763.6(RNF43):c.1028G>A (p.Arg343His) variant EFO:0004348 hematocrit IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 127294761 CV1158057 NM_017763.6(RNF43):c.1028G>A (p.Arg343His) variant EFO:0004459 ferritin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33536631 127294761 CV1158057 NM_017763.6(RNF43):c.1028G>A (p.Arg343His) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 127294761 CV1158057 NM_017763.6(RNF43):c.1028G>A (p.Arg343His) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 127294761 CV1158057 NM_017763.6(RNF43):c.1028G>A (p.Arg343His) variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 127294761 CV1158057 NM_017763.6(RNF43):c.1028G>A (p.Arg343His) variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 127294761 CV1158057 NM_017763.6(RNF43):c.1028G>A (p.Arg343His) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:35078996 127294761 CV1158057 NM_017763.6(RNF43):c.1028G>A (p.Arg343His) variant EFO:0020440 hepcidin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39643614 127294868 CV1156612 NM_021729.6(VPS11):c.1238+14C>T variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 127294868 CV1156612 NM_021729.6(VPS11):c.1238+14C>T variant EFO:0004343 waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30239722 127294868 CV1156612 NM_021729.6(VPS11):c.1238+14C>T variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 127294926 CV1156760 NM_013280.5(FLRT1):c.714C>T (p.Arg238=) variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 127294926 CV1156760 NM_013280.5(FLRT1):c.714C>T (p.Arg238=) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 127294926 CV1156760 NM_013280.5(FLRT1):c.714C>T (p.Arg238=) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 127294926 CV1156760 NM_013280.5(FLRT1):c.714C>T (p.Arg238=) variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 127294955 CV1155876 NM_017570.5(OPLAH):c.1836T>C (p.Phe612=) variant EFO:0010988 5-oxoproline measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 127294960 CV1155882 NM_017570.5(OPLAH):c.850A>C (p.Ser284Arg) variant EFO:0010988 5-oxoproline measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 127294960 CV1155882 NM_017570.5(OPLAH):c.850A>C (p.Ser284Arg) variant EFO:0021628 L-Pyroglutamic acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35995766 127294960 CV1155882 NM_017570.5(OPLAH):c.850A>C (p.Ser284Arg) variant EFO:0800066 6-oxopiperidine-2-carboxylate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 127295122 CV1156036 NM_032888.4(COL27A1):c.1264G>A (p.Ala422Thr) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 127295138 CV1156047 NM_032888.4(COL27A1):c.3570T>C (p.Leu1190=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0008018 alpha-1-antichymotrypsin complex measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0008252 OCIA domain-containing protein 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0008309 obsolete_tumor necrosis factor receptor superfamily member 19l measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0020303 cytochrome p450 3a4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0020773 thymidine kinase, cytosolic measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0020778 transcription factor IIIb 90 kda subunit measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0021905 CCAAT/enhancer-binding protein beta measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0021965 serine/threonine-protein kinase Chk1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0801340 activating signal cointegrator 1 complex subunit 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0801513 cytochrome c oxidase assembly factor 3 homolog, mitochondrial measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0801514 cytochrome c oxidase subunit 4 isoform 2, mitochondrial measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0801535 DNA-directed RNA polymerases I and III subunit RPAC1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0801555 E3 ubiquitin-protein ligase RNF128 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0801659 growth factor receptor-bound protein 7 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0801662 guanylate-binding protein 6 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0801751 kv channel-interacting protein 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0801763 leucine-rich repeat-containing protein 74A measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0801796 membrane-associated progesterone receptor component 2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0801984 rab9 effector protein with kelch motifs measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0802028 RNA polymerase II elongation factor ELL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0802030 RNA-binding protein 24 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0802039 secreted frizzled-related protein 2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0802114 T-cell surface glycoprotein CD3 epsilon chain measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0802484 DNA-binding protein SATB2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0802511 E3 ubiquitin-protein ligase RNF149 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0802689 leucine-rich repeat and fibronectin type III domain-containing protein 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0802773 myotubularin-related protein 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0802827 o-acetyl-ADP-ribose deacetylase MACROD1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0802894 pre-mRNA-processing factor 6 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0802969 protein YIPF6 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0802989 rap guanine nucleotide exchange factor 5 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0803025 ribosome biogenesis protein TSR3 homolog measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0803137 tachykinin-4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0803149 thioredoxin-interacting protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0803159 toll-like receptor 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296380 CV1158726 NM_001928.4(CFD):c.205G>A (p.Glu69Lys) variant EFO:0803287 zinc transporter 3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127296907 CV1158145 NM_001127198.5(TMC6):c.1082+5T>C variant EFO:0004309 platelet count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 127296907 CV1158145 NM_001127198.5(TMC6):c.1082+5T>C variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 127296910 CV1158067 NM_017763.6(RNF43):c.350G>A (p.Arg117His) variant EFO:0000537 hypertension IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 127296910 CV1158067 NM_017763.6(RNF43):c.350G>A (p.Arg117His) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 127296910 CV1158067 NM_017763.6(RNF43):c.350G>A (p.Arg117His) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 127296910 CV1158067 NM_017763.6(RNF43):c.350G>A (p.Arg117His) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 127296943 CV1155079 NM_000587.4(C7):c.382T>C (p.Cys128Arg) variant EFO:0008093 complement component C7 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 127296943 CV1155079 NM_000587.4(C7):c.382T>C (p.Cys128Arg) variant EFO:0020156 apolipoprotein D measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 127296943 CV1155079 NM_000587.4(C7):c.382T>C (p.Cys128Arg) variant EFO:0020215 calcineurin subunit B type 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 127296943 CV1155079 NM_000587.4(C7):c.382T>C (p.Cys128Arg) variant EFO:0020250 CD97 antigen measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 127296943 CV1155079 NM_000587.4(C7):c.382T>C (p.Cys128Arg) variant EFO:0020330 obsolete_dna repair protein rad51 homolog 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 127296943 CV1155079 NM_000587.4(C7):c.382T>C (p.Cys128Arg) variant EFO:0020513 kallikrein-14 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 127296943 CV1155079 NM_000587.4(C7):c.382T>C (p.Cys128Arg) variant EFO:0020801 obsolete_tumor necrosis factor receptor superfamily member 11b measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 127296943 CV1155079 NM_000587.4(C7):c.382T>C (p.Cys128Arg) variant EFO:0020813 obsolete_tumor necrosis factor receptor superfamily member 3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 127296943 CV1155079 NM_000587.4(C7):c.382T>C (p.Cys128Arg) variant EFO:0020833 tyrosine-protein kinase ZAP-70 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 127297510 CV1157775 NM_001013838.3(CARMIL2):c.541G>A (p.Val181Met) variant EFO:0004568 obsolete_serum non-albumin protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 127297510 CV1157775 NM_001013838.3(CARMIL2):c.541G>A (p.Val181Met) variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 127297510 CV1157775 NM_001013838.3(CARMIL2):c.541G>A (p.Val181Met) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 127297510 CV1157775 NM_001013838.3(CARMIL2):c.541G>A (p.Val181Met) variant EFO:MONDO:0020592 disorder of pharynx IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36653354 127298226 CV1153975 NM_212482.4(FN1):c.5274G>T (p.Ser1758=) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28135244 127298375 CV1158839 NM_007186.6(CEP250):c.4322G>A (p.Arg1441Gln) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 127298438 CV1155943 NM_000237.3(LPL):c.1322+483T>G variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 127298438 CV1155943 NM_000237.3(LPL):c.1322+483T>G variant EFO:0010118 sphingomyelin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 127298438 CV1155943 NM_000237.3(LPL):c.1322+483T>G variant EFO:0010226 phosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 127298438 CV1155943 NM_000237.3(LPL):c.1322+483T>G variant EFO:0010353 diacylglycerol 34:2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 127298438 CV1155943 NM_000237.3(LPL):c.1322+483T>G variant EFO:0010355 diacylglycerol 36:2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 127298438 CV1155943 NM_000237.3(LPL):c.1322+483T>G variant EFO:0020062 diacylglycerol 36:3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 127299049 CV1154465 NM_006514.4(SCN10A):c.3088-510A>G variant EFO:0000275 atrial fibrillation IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 127299049 CV1154465 NM_006514.4(SCN10A):c.3088-510A>G variant EFO:0004462 PR interval IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30679814 127299049 CV1154465 NM_006514.4(SCN10A):c.3088-510A>G variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38689001 127299049 CV1154465 NM_006514.4(SCN10A):c.3088-510A>G variant EFO:MONDO:0015263 Brugada syndrome IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38747976 127299642 CV1155703 NM_018685.5(ANLN):c.194C>G (p.Ser65Trp) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 127299862 CV1155193 NM_002454.3(MTRR):c.-26+755C>A variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 127299862 CV1155193 NM_002454.3(MTRR):c.-26+755C>A variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 127299890 CV1156080 NM_173689.7(CRB2):c.434T>C (p.Met145Thr) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36581621 127300160 CV1157841 NM_199355.4(ADAMTS18):c.3240C>A (p.Ser1080Arg) variant EFO:0004698 insomnia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35835914 127300265 CV1157015 NM_001065.4(TNFRSF1A):c.473-33T>C variant EFO:0004309 platelet count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 127300265 CV1157015 NM_001065.4(TNFRSF1A):c.473-33T>C variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 127300265 CV1157015 NM_001065.4(TNFRSF1A):c.473-33T>C variant EFO:0007985 platelet crit IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 127300749 CV1158226 NM_173728.4(ARHGEF15):c.830T>C (p.Leu277Pro) variant EFO:0004348 hematocrit IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 127300749 CV1158226 NM_173728.4(ARHGEF15):c.830T>C (p.Leu277Pro) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888494 127300749 CV1158226 NM_173728.4(ARHGEF15):c.830T>C (p.Leu277Pro) variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38632349 127300749 CV1158226 NM_173728.4(ARHGEF15):c.830T>C (p.Leu277Pro) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:29083408 127300749 CV1158226 NM_173728.4(ARHGEF15):c.830T>C (p.Leu277Pro) variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34021172 127300834 CV1155432 NM_001374736.1(DST):c.21675+7G>A variant EFO:0007636 attention function measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26174813 127301030 CV1156250 NM_015158.5(KANK1):c.2000G>A (p.Arg667His) variant EFO:0004467 insulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23263489 127301060 CV1156293 NM_020207.7(ERCC6L2):c.1742T>C (p.Val581Ala) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 127301783 CV1153595 NM_003738.5(PTCH2):c.2055T>C (p.Ala685=) variant EFO:0004695 intraocular pressure measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:30591961 127302066 CV1153253 NM_002796.3(PSMB4):c.701T>C (p.Ile234Thr) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 127302337 CV1157683 NM_001014987.2(LAT):c.399-9T>A variant EFO:0004784 self reported educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30038396 127302337 CV1157683 NM_001014987.2(LAT):c.399-9T>A variant EFO:0011015 educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35361970 127302688 CV1156248 NM_015158.5(KANK1):c.1833C>T (p.Asn611=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 127302693 CV1156034 NM_032888.4(COL27A1):c.265G>A (p.Val89Ile) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 127302918 CV1143174 NM_016816.4(OAS1):c.1039-1G>A variant EFO:MONDO:0100096 COVID-19 IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34237774 127303030 CV1155546 NM_000245.4(MET):c.-207C>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 127303048 CV1154529 NM_145262.4(GLYCTK):c.530-4A>G variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 127303070 CV1155647 NM_001621.5(AHR):c.132T>C (p.Asn44=) variant EFO:0006781 coffee consumption measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37106081 127303087 CV1157201 NM_001805.4(CEBPE):c.511-15T>G variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 127303087 CV1157201 NM_001805.4(CEBPE):c.511-15T>G variant EFO:0005090 basophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 127303087 CV1157201 NM_001805.4(CEBPE):c.511-15T>G variant EFO:0007991 eosinophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 127303087 CV1157201 NM_001805.4(CEBPE):c.511-15T>G variant EFO:0007992 basophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 127303087 CV1157201 NM_001805.4(CEBPE):c.511-15T>G variant EFO:0007994 neutrophil percentage of granulocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 127303295 CV1157972 NM_139276.3(STAT3):c.1049+452C>A variant EFO:0000274 atopic eczema IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26482879 127303455 CV1153434 NC_000001.11:g.206773289A>G variant EFO:HP:0000155 Oral ulcer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30837455 127303823 CV1157414 NM_001036.6(RYR3):c.2191A>G (p.Ile731Val) variant EFO:0004860 obsolete_common carotid intimal medial thickness IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:20009918 127303839 CV1154568 NM_001080517.3(SETD5):c.4131C>T (p.Asn1377=) variant EFO:0010092 bitter alcoholic beverage consumption measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31046077 127304032 CV1158135 NM_199242.3(UNC13D):c.117+59C>T variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30578418 127304032 CV1158135 NM_199242.3(UNC13D):c.117+59C>T variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39537608 127304248 CV1158262 NM_001942.4(DSG1):c.1493C>A (p.Thr498Asn) variant EFO:0004631 vitamin D measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32059762 127304554 CV1156321 NM_006459.4(ERLIN1):c.871A>G (p.Ile291Val) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 127304554 CV1156321 NM_006459.4(ERLIN1):c.871A>G (p.Ile291Val) variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32042192 127304554 CV1156321 NM_006459.4(ERLIN1):c.871A>G (p.Ile291Val) variant EFO:0004735 serum alanine aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38632349 127304554 CV1156321 NM_006459.4(ERLIN1):c.871A>G (p.Ile291Val) variant EFO:0004908 testosterone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32042192 127304554 CV1156321 NM_006459.4(ERLIN1):c.871A>G (p.Ile291Val) variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32451486 127304554 CV1156321 NM_006459.4(ERLIN1):c.871A>G (p.Ile291Val) variant EFO:0009458 alcohol use disorder measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32451486 127304554 CV1156321 NM_006459.4(ERLIN1):c.871A>G (p.Ile291Val) variant EFO:0009924 Drugs used in diabetes use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 127304554 CV1156321 NM_006459.4(ERLIN1):c.871A>G (p.Ile291Val) variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32541925 127305049 CV1155326 NM_001710.6(CFB):c.1856-18C>T variant EFO:0020277 complement C3D fragment measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127305049 CV1155326 NM_001710.6(CFB):c.1856-18C>T variant EFO:0801580 ER membrane protein complex subunit 4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127305110 CV1156590 NM_001655.5(ARCN1):c.1530T>C (p.Ile510=) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333282 127305142 CV1155335 NM_001290043.2(TAP2):c.1729A>G (p.Met577Val) variant EFO:0007633 response to thioamide IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26151496 127305142 CV1155335 NM_001290043.2(TAP2):c.1729A>G (p.Met577Val) variant EFO:HP:0012235 Drug-induced agranulocytosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26151496 127305303 CV1156914 NM_016816.4(OAS1):c.1054G>A (p.Ala352Thr) variant EFO:MONDO:0007915 systemic lupus erythematosus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33272962 127305382 CV1153311 NM_015331.3(NCSTN):c.733+18C>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 127305422 CV1153206 NC_000001.11:g.11262571G>T variant EFO:0002614 insulin resistance IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37291194 127305467 CV1157253 NM_002692.4(POLE2):c.612C>A (p.Val204=) variant EFO:0010822 stenosing tenosynovitis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32740585 127305478 CV1155349 NM_006979.3(SLC39A7):c.370G>C (p.Gly124Arg) variant EFO:0801490 collagen alpha-2(XI) chain measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 127305823 CV1157795 NM_001082486.2(ACD):c.1295T>C (p.Val432Ala) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32327693 127305844 CV1157814 NM_014003.4(DHX38):c.418C>A (p.Arg140=) variant EFO:0001645 coronary artery disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29212778 127306432 CV1156654 NM_024514.5(CYP2R1):c.1059C>T (p.Asp353=) variant EFO:0004631 vitamin D measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32059762 127306580 CV1158588 NC_000019.10:g.46601278T>A variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 127306954 CV1154893 NM_198253.3(TERT):c.1574-4455C>T variant EFO:0001071 lung carcinoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 127306954 CV1154893 NM_198253.3(TERT):c.1574-4455C>T variant EFO:0002890 renal carcinoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38671320 127306954 CV1154893 NM_198253.3(TERT):c.1574-4455C>T variant EFO:0002917 ovarian serous adenocarcinoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38723632 127306954 CV1154893 NM_198253.3(TERT):c.1574-4455C>T variant EFO:0004198 skin neoplasm IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 127306954 CV1154893 NM_198253.3(TERT):c.1574-4455C>T variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 127306954 CV1154893 NM_198253.3(TERT):c.1574-4455C>T variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 127306954 CV1154893 NM_198253.3(TERT):c.1574-4455C>T variant EFO:0004309 platelet count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 127306954 CV1154893 NM_198253.3(TERT):c.1574-4455C>T variant EFO:0004505 obsolete_telomere length IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32109421 127306954 CV1154893 NM_198253.3(TERT):c.1574-4455C>T variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 127306954 CV1154893 NM_198253.3(TERT):c.1574-4455C>T variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 127306954 CV1154893 NM_198253.3(TERT):c.1574-4455C>T variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 127306954 CV1154893 NM_198253.3(TERT):c.1574-4455C>T variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 127306954 CV1154893 NM_198253.3(TERT):c.1574-4455C>T variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 127306954 CV1154893 NM_198253.3(TERT):c.1574-4455C>T variant EFO:0007783 mosaic loss of chromosome Y measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:31624269 127306954 CV1154893 NM_198253.3(TERT):c.1574-4455C>T variant EFO:0007985 platelet crit IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 127306954 CV1154893 NM_198253.3(TERT):c.1574-4455C>T variant EFO:0007990 neutrophil percentage of leukocytes IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 127306954 CV1154893 NM_198253.3(TERT):c.1574-4455C>T variant EFO:0007991 eosinophil percentage of leukocytes IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888494 127306954 CV1154893 NM_198253.3(TERT):c.1574-4455C>T variant EFO:0007993 lymphocyte percentage of leukocytes IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 127306954 CV1154893 NM_198253.3(TERT):c.1574-4455C>T variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 127307780 CV1157693 NM_016151.4(TAOK2):c.1359C>T (p.Ser453=) variant EFO:0000195 metabolic syndrome IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31589552 127307780 CV1157693 NM_016151.4(TAOK2):c.1359C>T (p.Ser453=) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 127307780 CV1157693 NM_016151.4(TAOK2):c.1359C>T (p.Ser453=) variant EFO:0004464 obsolete_brain measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34910505 127307780 CV1157693 NM_016151.4(TAOK2):c.1359C>T (p.Ser453=) variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 127307780 CV1157693 NM_016151.4(TAOK2):c.1359C>T (p.Ser453=) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 127307780 CV1157693 NM_016151.4(TAOK2):c.1359C>T (p.Ser453=) variant EFO:0004616 osteoarthritis, knee IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36889626 127307780 CV1157693 NM_016151.4(TAOK2):c.1359C>T (p.Ser453=) variant EFO:0004698 insomnia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35835914 127307780 CV1157693 NM_016151.4(TAOK2):c.1359C>T (p.Ser453=) variant EFO:0004995 lean body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 127307780 CV1157693 NM_016151.4(TAOK2):c.1359C>T (p.Ser453=) variant EFO:0005409 obsolete_fat body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 127307780 CV1157693 NM_016151.4(TAOK2):c.1359C>T (p.Ser453=) variant EFO:0007929 triglyceride:HDL cholesterol ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38200128 127307780 CV1157693 NM_016151.4(TAOK2):c.1359C>T (p.Ser453=) variant EFO:MONDO:0004985 bipolar disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33479212 127307780 CV1157693 NM_016151.4(TAOK2):c.1359C>T (p.Ser453=) variant EFO:MONDO:0005090 schizophrenia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33479212 127308303 CV1153518 NM_172369.5(C1QC):c.126C>T (p.Pro42=) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 127308651 CV1158059 NM_017763.6(RNF43):c.1007G>A (p.Gly336Asp) variant EFO:0004272 anemia (phenotype) IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 127308651 CV1158059 NM_017763.6(RNF43):c.1007G>A (p.Gly336Asp) variant EFO:HP:0001891 Iron deficiency anemia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38018286 127308651 CV1158059 NM_017763.6(RNF43):c.1007G>A (p.Gly336Asp) variant EFO:MONDO:0002280 anemia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38018286 127308935 CV1154207 NM_015425.6(POLR1A):c.4224G>A (p.Gly1408=) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35762941 127309144 CV1156430 NM_032776.3(JMJD1C):c.7605G>C (p.Glu2535Asp) variant EFO:0004908 testosterone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34321204 127309144 CV1156430 NM_032776.3(JMJD1C):c.7605G>C (p.Glu2535Asp) variant EFO:0005058 tyrosine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33414548 127309144 CV1156430 NM_032776.3(JMJD1C):c.7605G>C (p.Glu2535Asp) variant EFO:0022341 triglycerides to total lipids in very small VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 127309690 CV1154369 NM_004366.6(CLCN2):c.1397-13C>T variant EFO:0010736 obsolete_cortical surface area measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34910505 127309716 CV1154587 NM_017491.5(WDR1):c.1569G>A (p.Ser523=) variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 127309752 CV1154822 NM_005612.5(REST):c.2390C>T (p.Pro797Leu) variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 127309752 CV1154822 NM_005612.5(REST):c.2390C>T (p.Pro797Leu) variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 127310016 CV1153949 NM_001372051.1(CASP8):c.1305-19A>G variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 127310068 CV1155020 NM_003052.5(SLC34A1):c.389-20C>T variant EFO:0003884 chronic kidney disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31152163 127310068 CV1155020 NM_003052.5(SLC34A1):c.389-20C>T variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28452372 127310068 CV1155020 NM_003052.5(SLC34A1):c.389-20C>T variant EFO:0004741 blood urea nitrogen measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37919891 127310068 CV1155020 NM_003052.5(SLC34A1):c.389-20C>T variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28452372 127310068 CV1155020 NM_003052.5(SLC34A1):c.389-20C>T variant EFO:0021981 superoxide dismutase [Mn] IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 127310196 CV1154928 NM_016580.4(PCDH12):c.1919G>A (p.Ser640Asn) variant EFO:0800540 arachidoylcarnitine (C20) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 127310247 CV1157596 NC_000016.10:g.10877045G>A variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32929287 127310251 CV1157697 NM_001243177.4(ALDOA):c.142-63G>C variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 127310251 CV1157697 NM_001243177.4(ALDOA):c.142-63G>C variant EFO:0007985 platelet crit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 127310363 CV1154181 NM_001039348.3(EFEMP1):c.81+20G>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 127310368 CV1159165 NM_000878.5(IL2RB):c.389-20C>G variant EFO:0802657 interleukin-2 receptor subunit beta measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127310420 CV1153427 NM_005076.5(CNTN2):c.2628C>T (p.Ser876=) variant EFO:0008579 risk-taking behaviour IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30643258 127310600 CV1155565 NM_001134232.2(TMEM106B):c.554C>G (p.Thr185Ser) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36581621 127310783 CV1156674 NC_000011.10:g.2172367C>T variant EFO:0000649 periodontitis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36778599 127310783 CV1156674 NC_000011.10:g.2172367C>T variant EFO:MONDO:0005147 type 1 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38453145 127310970 CV1156375 NM_000141.5(FGFR2):c.109+3899T>A variant EFO:0004624 obsolete_prostate specific antigen measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37264206 127310970 CV1156375 NM_000141.5(FGFR2):c.109+3899T>A variant EFO:OBA:2050200 prostate specific antigen amount IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37264206 127310980 CV1156976 NM_000719.7(CACNA1C):c.477+116797C>T variant EFO:MONDO:0005090 schizophrenia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28991256 127311086 CV1159089 NC_000022.11:g.19755901C>T variant EFO:0007746 white matter lesion progression measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35386118 127311296 CV1153849 NM_022168.4(IFIH1):c.2616+11T>C variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 127311731 CV1156773 NM_031471.6(FERMT3):c.1449G>A (p.Pro483=) variant EFO:0009931 Agents acting on the renin-angiotensin system use measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31015401 127311731 CV1156773 NM_031471.6(FERMT3):c.1449G>A (p.Pro483=) variant EFO:0009932 HMG CoA reductase inhibitor use measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31015401 127311740 CV1156826 NM_001567.4(INPPL1):c.1368C>T (p.Asp456=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 127311967 CV1156615 NM_021729.6(VPS11):c.1980C>T (p.Cys660=) variant EFO:0001645 coronary artery disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36474045 127311967 CV1156615 NM_021729.6(VPS11):c.1980C>T (p.Cys660=) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 127311973 CV1156617 NM_021729.6(VPS11):c.2666A>G (p.Lys889Arg) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36581621 127311996 CV1156637 NM_170601.5(SIAE):c.212A>G (p.Lys71Arg) variant EFO:0005653 serum metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24625756 127312423 CV1157171 NM_145725.3(TRAF3):c.386T>C (p.Met129Thr) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29273807 127313555 CV1158126 NM_003809.3(TNFSF12):c.72C>T (p.Leu24=) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 127313555 CV1158126 NM_003809.3(TNFSF12):c.72C>T (p.Leu24=) variant EFO:0010801 obsolete_tumor necrosis factor ligand superfamily member 12 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127314069 CV1159131 NM_003661.4(APOL1):c.448G>A (p.Glu150Lys) variant EFO:0021854 apolipoprotein L1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 127314129 CV1112272 NM_001557.4(CXCR2):c.743G>A (p.Arg248Gln) variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 127314129 CV1112272 NM_001557.4(CXCR2):c.743G>A (p.Arg248Gln) variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 127314129 CV1112272 NM_001557.4(CXCR2):c.743G>A (p.Arg248Gln) variant EFO:0007990 neutrophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 127314129 CV1112272 NM_001557.4(CXCR2):c.743G>A (p.Arg248Gln) variant EFO:0007993 lymphocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 127315602 CV1157984 NM_000151.4(G6PC1):c.610G>T (p.Ala204Ser) variant EFO:OBA:2045185 level of Ceramide (d40:1) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37907536 127315910 CV1158592 NM_000234.3(LIG1):c.2652G>A (p.Pro884=) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32778093 127315938 CV1157835 NM_014003.4(DHX38):c.3477+5G>A variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32327693 127315938 CV1157835 NM_014003.4(DHX38):c.3477+5G>A variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 127315938 CV1157835 NM_014003.4(DHX38):c.3477+5G>A variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 127315938 CV1157835 NM_014003.4(DHX38):c.3477+5G>A variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 127315938 CV1157835 NM_014003.4(DHX38):c.3477+5G>A variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 127316070 CV1155089 NM_000587.4(C7):c.1759A>C (p.Thr587Pro) variant EFO:0008093 complement component C7 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28240269 127316088 CV1156606 NM_006389.5(HYOU1):c.381C>T (p.Phe127=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 127316201 CV1155341 NM_001290043.2(TAP2):c.608+7G>A variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32327693 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33462484 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0004732 lipoprotein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0005110 fatty acid measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0005680 omega-6 polyunsaturated fatty acid measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0005689 non-high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34887591 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0006807 linoleic acid measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0007761 docosahexaenoic acid measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0008589 esterified cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0008591 free cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0010116 choline measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0010118 sphingomyelin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0010226 phosphatidylcholine measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0010230 phosphatidylinositol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34503513 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0010351 cholesteryl ester measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0010733 polyunsaturated fatty acid measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0010815 remnant cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0020946 phospholipids:total lipids ratio IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0021897 apolipoprotein B to apolipoprotein A1 ratio IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0021899 cholesterol in IDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0021900 cholesterol in large HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0021903 cholesterol in medium HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022156 total lipids in very small VLDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022157 free cholesterol in large HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022161 total lipids in IDL IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022164 phospholipids in IDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022187 monounsaturated fatty acids IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022189 total lipids in large HDL IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022190 phospholipids in large HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022226 cholesterol in small HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022231 cholesterol in very small VLDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022238 cholesterol to total lipids in medium LDL percentage IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022240 cholesterol to total lipids in small HDL percentage IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022241 cholesterol to total lipids in small LDL percentage IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022243 cholesterol to total lipids in very large HDL percentage IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022247 cholesteryl esters to total lipids in IDL percentage IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022252 cholesteryl esters to total lipids in medium LDL percentage IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022254 cholesteryl esters to total lipids in small HDL percentage IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022255 cholesteryl esters to total lipids in small LDL percentage IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022264 free cholesterol in HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022267 free cholesterol in medium HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022270 free cholesterol in small HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022281 free cholesterol to total lipids in large VLDL percentage IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022288 free cholesterol to total lipids in very large HDL percentage IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022291 phosphoglycerides measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022293 phospholipids in HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022295 phospholipids in medium HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022296 phospholipids in small HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022298 phospholipids in very large HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022304 saturated fatty acids measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022307 total lipids in HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022309 total lipids in lipoprotein particles measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022310 total lipids in medium HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022311 total lipids in small HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022312 total lipids in very large HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022315 total phospholipids in lipoprotein particles measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022317 triglycerides in HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022321 triglycerides in medium HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0022324 triglycerides in very large HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 127316771 CV1158310 NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) variant EFO:0800184 1-stearoyl-2-arachidonoyl-GPI (18:0/20:4) measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36635386 127316922 CV1158979 NM_005534.4(IFNGR2):c.191A>G (p.Gln64Arg) variant EFO:MONDO:0005301 multiple sclerosis IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31604244 127316930 CV1159005 NM_015259.6(ICOSLG):c.382G>A (p.Val128Ile) variant EFO:0000685 rheumatoid arthritis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35470158 127316930 CV1159005 NM_015259.6(ICOSLG):c.382G>A (p.Val128Ile) variant EFO:0007791 rheumatoid factor seropositivity measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35470158 127316930 CV1159005 NM_015259.6(ICOSLG):c.382G>A (p.Val128Ile) variant EFO:0009459 ACPA-positive rheumatoid arthritis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35470158 127316930 CV1159005 NM_015259.6(ICOSLG):c.382G>A (p.Val128Ile) variant EFO:0020460 icos ligand measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 127317293 CV1158913 NM_000744.7(CHRNA4):c.*534C>T variant EFO:0004319 smoking cessation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 127317528 CV1156453 NM_021800.3(DNAJC12):c.243C>T (p.Ser81=) variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 127317528 CV1156453 NM_021800.3(DNAJC12):c.243C>T (p.Ser81=) variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 127317785 CV1158574 NM_006494.4(ERF):c.1230T>C (p.Ala410=) variant EFO:0005091 monocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 127317928 CV1158513 NM_021102.4(SPINT2):c.598G>C (p.Val200Leu) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 127317928 CV1158513 NM_021102.4(SPINT2):c.598G>C (p.Val200Leu) variant EFO:0008200 Kunitz-type protease inhibitor 2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 127318033 CV1158989 NM_138927.4(SON):c.4152G>A (p.Leu1384=) variant EFO:0004784 self reported educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30038396 127318150 CV1153619 NM_000066.4(C8B):c.349G>A (p.Gly117Arg) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127318150 CV1153619 NM_000066.4(C8B):c.349G>A (p.Gly117Arg) variant EFO:0008244 neurexophilin-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 127318150 CV1153619 NM_000066.4(C8B):c.349G>A (p.Gly117Arg) variant EFO:0802051 semenogelin-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 127318150 CV1153619 NM_000066.4(C8B):c.349G>A (p.Gly117Arg) variant EFO:0802053 septin-10 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 127318150 CV1153619 NM_000066.4(C8B):c.349G>A (p.Gly117Arg) variant EFO:0802190 uncharacterized protein C14orf93 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127318542 CV1112271 NM_001557.4(CXCR2):c.706C>T (p.Arg236Cys) variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 127318700 CV1154606 NM_001004356.3(FGFRL1):c.1391C>T (p.Pro464Leu) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 127318837 CV1156527 NM_152309.3(PIK3AP1):c.1913A>G (p.Lys638Arg) variant EFO:0007989 monocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 127318837 CV1156527 NM_152309.3(PIK3AP1):c.1913A>G (p.Lys638Arg) variant EFO:0007993 lymphocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 127318974 CV1157272 NM_000161.3(GCH1):c.344-16715G>A variant EFO:MONDO:0005180 Parkinson disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38155330 127319030 CV1157418 NM_001036.6(RYR3):c.4921C>T (p.Arg1641Cys) variant EFO:0006821 trans fatty acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25646338 127319030 CV1157418 NM_001036.6(RYR3):c.4921C>T (p.Arg1641Cys) variant EFO:0006826 trans/trans-18:2 fatty acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25646338 127319154 CV1158208 NM_004104.5(FASN):c.3267C>G (p.Ala1089=) variant EFO:MONDO:0005180 Parkinson disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38155330 127319165 CV1158808 NM_001282933.2(ZNF341):c.1929C>T (p.Ile643=) variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 127319320 CV1154827 NM_005612.5(REST):c.3165G>A (p.Ala1055=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 127319340 CV1159192 NM_020831.6(MRTFA):c.2242A>G (p.Ser748Gly) variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 127319340 CV1159192 NM_020831.6(MRTFA):c.2242A>G (p.Ser748Gly) variant EFO:0007990 neutrophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 127319340 CV1159192 NM_020831.6(MRTFA):c.2242A>G (p.Ser748Gly) variant EFO:0007993 lymphocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 127319365 CV1155826 NM_001146.5(ANGPT1):c.770C>A (p.Thr257Lys) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 127319444 CV1159145 NM_000395.3(CSF2RB):c.200+16G>T variant EFO:0005854 allergic rhinitis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31361310 127319444 CV1159145 NM_000395.3(CSF2RB):c.200+16G>T variant EFO:HP:0000964 Eczematoid dermatitis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31361310 127319491 CV1153425 NM_005076.5(CNTN2):c.433G>A (p.Ala145Thr) variant EFO:0008100 contactin-2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 127319540 CV1157032 NM_002075.4(GNB3):c.814G>A (p.Gly272Ser) variant EFO:0004190 open-angle glaucoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37386247 127319540 CV1157032 NM_002075.4(GNB3):c.814G>A (p.Gly272Ser) variant EFO:0004847 age at onset IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29808027 127319540 CV1157032 NM_002075.4(GNB3):c.814G>A (p.Gly272Ser) variant EFO:0010554 retinal vasculature measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26567291 127319540 CV1157032 NM_002075.4(GNB3):c.814G>A (p.Gly272Ser) variant EFO:0600002 obsolete_retinal layer thickness measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33979322 127319540 CV1157032 NM_002075.4(GNB3):c.814G>A (p.Gly272Ser) variant EFO:0600005 obsolete_ganglion cell inner plexiform layer thickness measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33979322 127319540 CV1157032 NM_002075.4(GNB3):c.814G>A (p.Gly272Ser) variant EFO:HP:0000545 Myopia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29808027 127319540 CV1157032 NM_002075.4(GNB3):c.814G>A (p.Gly272Ser) variant EFO:MONDO:0004892 refractive error IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29808027 127319546 CV1157047 NM_001734.5(C1S):c.356G>A (p.Arg119His) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127319546 CV1157047 NM_001734.5(C1S):c.356G>A (p.Arg119His) variant EFO:0007655 clusterin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127319546 CV1157047 NM_001734.5(C1S):c.356G>A (p.Arg119His) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 127319546 CV1157047 NM_001734.5(C1S):c.356G>A (p.Arg119His) variant EFO:0008089 complement C1q subcomponent measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28240269 127319546 CV1157047 NM_001734.5(C1S):c.356G>A (p.Arg119His) variant EFO:0008090 complement C1r subcomponent measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127319546 CV1157047 NM_001734.5(C1S):c.356G>A (p.Arg119His) variant EFO:0008091 complement C1s subcomponent measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127319546 CV1157047 NM_001734.5(C1S):c.356G>A (p.Arg119His) variant EFO:0008092 complement C4b measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127319546 CV1157047 NM_001734.5(C1S):c.356G>A (p.Arg119His) variant EFO:0020338 dynactin subunit 2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127319546 CV1157047 NM_001734.5(C1S):c.356G>A (p.Arg119His) variant EFO:0801379 amyloid beta A4 precursor protein-binding family B member 2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127319546 CV1157047 NM_001734.5(C1S):c.356G>A (p.Arg119His) variant EFO:0802044 segment polarity protein dishevelled homolog DVL-2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127319546 CV1157047 NM_001734.5(C1S):c.356G>A (p.Arg119His) variant EFO:0802172 tyrosine-protein phosphatase non-receptor type 4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127319714 CV1158784 NC_000020.11:g.32762102T>C variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38632349 127319962 CV1156533 NM_152309.3(PIK3AP1):c.61G>A (p.Glu21Lys) variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38632349 127319981 CV1155815 NM_005720.4(ARPC1B):c.111G>C (p.Lys37Asn) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39280063 127320001 CV1157733 NM_015041.3(CLUAP1):c.1201C>T (p.Arg401Trp) variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 127320001 CV1157733 NM_015041.3(CLUAP1):c.1201C>T (p.Arg401Trp) variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35710981 127320072 CV1157340 NM_015072.5(TTLL5):c.2388-12T>C variant EFO:0004143 carpal tunnel syndrome IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35332129 127320736 CV1156833 NM_002599.5(PDE2A):c.2601A>G (p.Ala867=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 127320886 CV1153617 NM_000066.4(C8B):c.782C>T (p.Pro261Leu) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 127320886 CV1153617 NM_000066.4(C8B):c.782C>T (p.Pro261Leu) variant EFO:0801842 NKG2-E type II integral membrane protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 127320886 CV1153617 NM_000066.4(C8B):c.782C>T (p.Pro261Leu) variant EFO:0802051 semenogelin-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127320886 CV1153617 NM_000066.4(C8B):c.782C>T (p.Pro261Leu) variant EFO:0802053 septin-10 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 127320889 CV1153620 NM_000066.4(C8B):c.322G>A (p.Glu108Lys) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127320889 CV1153620 NM_000066.4(C8B):c.322G>A (p.Glu108Lys) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 127320889 CV1153620 NM_000066.4(C8B):c.322G>A (p.Glu108Lys) variant EFO:0008094 complement component C8 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127320889 CV1153620 NM_000066.4(C8B):c.322G>A (p.Glu108Lys) variant EFO:0008321 WNT1-inducible-signaling pathway protein 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 127320889 CV1153620 NM_000066.4(C8B):c.322G>A (p.Glu108Lys) variant EFO:0802053 septin-10 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127320889 CV1153620 NM_000066.4(C8B):c.322G>A (p.Glu108Lys) variant EFO:0803236 UPF0729 protein C18orf32 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127321439 CV1157682 NM_001014987.2(LAT):c.360G>A (p.Ala120=) variant EFO:0803358 anti-SARS-CoV-2 IgG measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38181733 127321439 CV1157682 NM_001014987.2(LAT):c.360G>A (p.Ala120=) variant EFO:0803362 response to COVID-19 vaccine IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38181733 127321449 CV1157694 NM_016151.4(TAOK2):c.2607A>G (p.Thr869=) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29273807 127322024 CV1158393 NM_020812.4(DOCK6):c.2136A>G (p.Thr712=) variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35884923 127322024 CV1158393 NM_020812.4(DOCK6):c.2136A>G (p.Thr712=) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26690388 127322024 CV1158393 NM_020812.4(DOCK6):c.2136A>G (p.Thr712=) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:20686565 127322024 CV1158393 NM_020812.4(DOCK6):c.2136A>G (p.Thr712=) variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 127322024 CV1158393 NM_020812.4(DOCK6):c.2136A>G (p.Thr712=) variant EFO:0004732 lipoprotein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 127322024 CV1158393 NM_020812.4(DOCK6):c.2136A>G (p.Thr712=) variant EFO:0007805 HDL cholesterol change measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26690388 127322024 CV1158393 NM_020812.4(DOCK6):c.2136A>G (p.Thr712=) variant EFO:0010351 cholesteryl ester measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 127322024 CV1158393 NM_020812.4(DOCK6):c.2136A>G (p.Thr712=) variant EFO:0021900 cholesterol in large HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 127322024 CV1158393 NM_020812.4(DOCK6):c.2136A>G (p.Thr712=) variant EFO:0021903 cholesterol in medium HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 127322024 CV1158393 NM_020812.4(DOCK6):c.2136A>G (p.Thr712=) variant EFO:0022157 free cholesterol in large HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 127322024 CV1158393 NM_020812.4(DOCK6):c.2136A>G (p.Thr712=) variant EFO:0022189 total lipids in large HDL IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 127322024 CV1158393 NM_020812.4(DOCK6):c.2136A>G (p.Thr712=) variant EFO:0022190 phospholipids in large HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 127322024 CV1158393 NM_020812.4(DOCK6):c.2136A>G (p.Thr712=) variant EFO:0022264 free cholesterol in HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 127322024 CV1158393 NM_020812.4(DOCK6):c.2136A>G (p.Thr712=) variant EFO:0022267 free cholesterol in medium HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 127322024 CV1158393 NM_020812.4(DOCK6):c.2136A>G (p.Thr712=) variant EFO:0022288 free cholesterol to total lipids in very large HDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 127322024 CV1158393 NM_020812.4(DOCK6):c.2136A>G (p.Thr712=) variant EFO:0022293 phospholipids in HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 127322024 CV1158393 NM_020812.4(DOCK6):c.2136A>G (p.Thr712=) variant EFO:0022307 total lipids in HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 127322024 CV1158393 NM_020812.4(DOCK6):c.2136A>G (p.Thr712=) variant EFO:OBA:2045159 level of Phosphatidylinositol (18:1_18:1) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36193934 127322033 CV1157810 NM_014003.4(DHX38):c.47C>G (p.Thr16Ser) variant EFO:0004640 haptoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 127322334 CV1158971 NM_000629.3(IFNAR1):c.502G>C (p.Val168Leu) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 127322334 CV1158971 NM_000629.3(IFNAR1):c.502G>C (p.Val168Leu) variant EFO:0021850 interferon alpha/beta receptor 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 127322573 CV1159161 NM_000878.5(IL2RB):c.750C>T (p.Gly250=) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 127322573 CV1159161 NM_000878.5(IL2RB):c.750C>T (p.Gly250=) variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 127322573 CV1159161 NM_000878.5(IL2RB):c.750C>T (p.Gly250=) variant EFO:0007991 eosinophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 127326765 CV1135226 NM_004944.4(DNASE1L3):c.616C>T (p.Arg206Cys) variant EFO:0000685 rheumatoid arthritis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30573655 127326765 CV1135226 NM_004944.4(DNASE1L3):c.616C>T (p.Arg206Cys) variant EFO:0000717 systemic scleroderma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24387989 127326765 CV1135226 NM_004944.4(DNASE1L3):c.616C>T (p.Arg206Cys) variant EFO:0000783 myositis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30573655 127326765 CV1135226 NM_004944.4(DNASE1L3):c.616C>T (p.Arg206Cys) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127326765 CV1135226 NM_004944.4(DNASE1L3):c.616C>T (p.Arg206Cys) variant EFO:0005140 autoimmune disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30572963 127326765 CV1135226 NM_004944.4(DNASE1L3):c.616C>T (p.Arg206Cys) variant EFO:0006812 autoimmune thyroid disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32581359 127326765 CV1135226 NM_004944.4(DNASE1L3):c.616C>T (p.Arg206Cys) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 127326765 CV1135226 NM_004944.4(DNASE1L3):c.616C>T (p.Arg206Cys) variant EFO:0021952 histone H2B type 2-E measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127326765 CV1135226 NM_004944.4(DNASE1L3):c.616C>T (p.Arg206Cys) variant EFO:0021953 histone H2A type 3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 127326765 CV1135226 NM_004944.4(DNASE1L3):c.616C>T (p.Arg206Cys) variant EFO:1001017 limited scleroderma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24387989 127326765 CV1135226 NM_004944.4(DNASE1L3):c.616C>T (p.Arg206Cys) variant EFO:MONDO:0007915 systemic lupus erythematosus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30573655 127331847 CV227599 NM_198253.3(TERT):c.1769+225G>T variant EFO:0001071 lung carcinoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37846649 127331847 CV227599 NM_198253.3(TERT):c.1769+225G>T variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 127331847 CV227599 NM_198253.3(TERT):c.1769+225G>T variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 127331847 CV227599 NM_198253.3(TERT):c.1769+225G>T variant EFO:0004348 hematocrit IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888494 127331847 CV227599 NM_198253.3(TERT):c.1769+225G>T variant EFO:1002017 differentiated thyroid carcinoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33527407 127333574 CV227593 NM_001378452.1(ITPR1):c.4536+651A>G variant EFO:0000305 breast carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29059683 127333578 CV227595 NM_003242.6(TGFBR2):c.95-3300G>C variant EFO:0000305 breast carcinoma IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:23535729 127333581 CV227651 NM_020831.6(MRTFA):c.242-16944A>G variant EFO:0000305 breast carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29059683 127333581 CV227651 NM_020831.6(MRTFA):c.242-16944A>G variant EFO:1000650 estrogen-receptor negative breast cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29058716 12741184 CV359811 NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys) variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 12741184 CV359811 NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys) variant EFO:0007984 platelet component distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 12741367 CV361772 NM_016233.2(PADI3):c.881C>T (p.Ala294Val) variant EFO:0003924 hair color IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30531825 12741367 CV361772 NM_016233.2(PADI3):c.881C>T (p.Ala294Val) variant EFO:0007822 obsolete_hair colour measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34737426 12742409 CV360206 NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 12742931 CV361592 NM_001358530.2(MOCS1):c.124-69G>A variant EFO:0009001 Mastocytosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32752121 12742931 CV361592 NM_001358530.2(MOCS1):c.124-69G>A variant EFO:MONDO:0016586 systemic mastocytosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32752121 12743233 CV361424 NM_000452.3(SLC10A2):c.868C>T (p.Pro290Ser) variant EFO:0010574 epithelial cell adhesion molecule measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25147954 12743233 CV361424 NM_000452.3(SLC10A2):c.868C>T (p.Pro290Ser) variant EFO:0800384 glycochenodeoxycholate 3-sulfate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 12791666 CV362499 NM_000015.3(NAT2):c.282C>T (p.Tyr94=) variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333282 12791666 CV362499 NM_000015.3(NAT2):c.282C>T (p.Tyr94=) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333282 12791666 CV362499 NM_000015.3(NAT2):c.282C>T (p.Tyr94=) variant EFO:0800950 5-acetylamino-6-formylamino-3-methyluracil measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 12791677 CV362505 NM_006446.5(SLCO1B1):c.1865+4846T>C variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23281178 12791677 CV362505 NM_006446.5(SLCO1B1):c.1865+4846T>C variant EFO:0010225 lysophosphatidylethanolamine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 12833613 CV367044 NM_005911.6(MAT2A):c.792C>G (p.Arg264=) variant EFO:0003913 angina pectoris IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 12833779 CV366940 NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) variant EFO:0004319 smoking cessation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 12834732 CV373212 NM_001478.5(B4GALNT1):c.666G>T (p.Leu222=) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 12835550 CV374134 NM_001128225.3(SLC39A13):c.58A>G (p.Thr20Ala) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 12835550 CV374134 NM_001128225.3(SLC39A13):c.58A>G (p.Thr20Ala) variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 12836886 CV373723 NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val) variant EFO:0005421 obsolete_serum homoarginine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 12836886 CV373723 NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val) variant EFO:0800072 methionine sulfone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 12837332 CV367282 NM_005051.3(QARS1):c.854A>G (p.Asn285Ser) variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 12837332 CV367282 NM_005051.3(QARS1):c.854A>G (p.Asn285Ser) variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 12837332 CV367282 NM_005051.3(QARS1):c.854A>G (p.Asn285Ser) variant EFO:0008328 chronotype measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30696823 12837699 CV370098 NM_013352.4(DSE):c.101C>T (p.Pro34Leu) variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 12837699 CV370098 NM_013352.4(DSE):c.101C>T (p.Pro34Leu) variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 12837720 CV375165 NM_015443.4(KANSL1):c.1738G>A (p.Val580Ile) variant EFO:0011013 vaginal microbiome measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34282934 12837998 CV368514 NM_018341.3(ERMARD):c.870C>T (p.Cys290=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 12838261 CV379579 NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn) variant EFO:0004312 vital capacity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30804560 12838261 CV379579 NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn) variant EFO:0004713 FEV/FVC ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30804560 12838261 CV379579 NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn) variant EFO:0004860 obsolete_common carotid intimal medial thickness IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39537608 12838261 CV379579 NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn) variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33097823 12838261 CV379579 NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 12838261 CV379579 NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 12838261 CV379579 NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn) variant EFO:0009718 peak expiratory flow IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30804560 12838685 CV374064 NM_001013703.4(EIF2AK4):c.4562-8G>T variant EFO:0004345 corneal topography IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:22969067 12838772 CV371216 NM_004092.4(ECHS1):c.489G>A (p.Pro163=) variant EFO:0020863 major adverse cardiovascular event measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34158603 12838772 CV371216 NM_004092.4(ECHS1):c.489G>A (p.Pro163=) variant EFO:GO:1903492 response to acetylsalicylate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34158603 12838772 CV371216 NM_004092.4(ECHS1):c.489G>A (p.Pro163=) variant EFO:GO:1903493 response to clopidogrel IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34158603 12838789 CV373396 NM_001013703.4(EIF2AK4):c.3916G>T (p.Gly1306Cys) variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 12838888 CV369975 NM_013391.3(DMGDH):c.898C>T (p.Leu300Phe) variant EFO:0006794 obsolete_cerebrospinal fluid biomarker measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528826 12838888 CV369975 NM_013391.3(DMGDH):c.898C>T (p.Leu300Phe) variant EFO:0010476 dimethylglycine measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528826 12838892 CV367890 NM_001291303.3(FAT4):c.10577G>A (p.Gly3526Asp) variant EFO:0004190 open-angle glaucoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37386247 12838941 CV366944 NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) variant EFO:0004236 focal segmental glomerulosclerosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36623684 12839759 CV364707 NM_002838.5(PTPRC):c.177C>G (p.Pro59=) variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 12839856 CV32909 NM_000041.4(APOE):c.137T>C (p.Leu46Pro) variant EFO:0009268 family history of Alzheimer’s disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30617256 12839856 CV32909 NM_000041.4(APOE):c.137T>C (p.Leu46Pro) variant EFO:MONDO:0004975 Alzheimer disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30617256 12840145 CV374791 NM_020778.5(ALPK3):c.1130G>A (p.Gly377Glu) variant EFO:0008205 left ventricular structural measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38036550 12840569 CV376070 NM_006939.4(SOS2):c.1344G>A (p.Leu448=) variant EFO:0005193 serum IgG glycosylation measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35332118 12841075 CV379913 NM_003399.6(XPNPEP2):c.447T>C (p.Pro149=) variant EFO:0005091 monocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 12841137 CV370319 NM_020442.6(VARS2):c.190G>A (p.Gly64Arg) variant EFO:0021241 X-11470 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 12842204 CV365234 NM_022114.4(PRDM16):c.2603+20C>T variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35762941 12842204 CV365234 NM_022114.4(PRDM16):c.2603+20C>T variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 12843520 CV377193 NM_001958.5(EEF1A2):c.-72+8C>A variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 12843520 CV377193 NM_001958.5(EEF1A2):c.-72+8C>A variant EFO:0005409 obsolete_fat body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 12844175 CV369960 NM_013391.3(DMGDH):c.1589C>G (p.Ala530Gly) variant EFO:0010476 dimethylglycine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 12845286 CV368459 NM_001085411.3(NADK2):c.632G>A (p.Arg211His) variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 12845286 CV368459 NM_001085411.3(NADK2):c.632G>A (p.Arg211His) variant EFO:0005002 obsolete_lysine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33414548 12845286 CV368459 NM_001085411.3(NADK2):c.632G>A (p.Arg211His) variant EFO:0009765 alanine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 12845667 CV366807 NM_014362.4(HIBCH):c.2T>C (p.Met1Thr) variant EFO:0800622 methylmalonate (MMA) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 12845679 CV366106 NM_000384.3(APOB):c.307T>C (p.Tyr103His) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30275531 12846174 CV375460 NM_144670.6(A2ML1):c.2909G>A (p.Cys970Tyr) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 12846417 CV378643 NM_213720.3(CHCHD10):c.261+11A>G variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 12846473 CV377009 NM_001397406.1(FDX2):c.76A>G (p.Arg26Gly) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 12846473 CV377009 NM_001397406.1(FDX2):c.76A>G (p.Arg26Gly) variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 12846476 CV375130 NM_001243177.4(ALDOA):c.1161+17G>T variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31761296 12846476 CV375130 NM_001243177.4(ALDOA):c.1161+17G>T variant EFO:0008579 risk-taking behaviour IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30643258 12846616 CV372229 NM_001128225.3(SLC39A13):c.573G>A (p.Ala191=) variant EFO:0004342 obsolete_waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25673412 12846616 CV372229 NM_001128225.3(SLC39A13):c.573G>A (p.Ala191=) variant EFO:0005093 obsolete_hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25673412 12846616 CV372229 NM_001128225.3(SLC39A13):c.573G>A (p.Ala191=) variant EFO:0009458 alcohol use disorder measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30336701 12847087 CV374744 NM_013275.6(ANKRD11):c.6067G>C (p.Ala2023Pro) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32327693 12847164 CV373107 NM_006939.4(SOS2):c.622G>A (p.Ala208Thr) variant EFO:0004190 open-angle glaucoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37386247 12847164 CV373107 NM_006939.4(SOS2):c.622G>A (p.Ala208Thr) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30578418 12847164 CV373107 NM_006939.4(SOS2):c.622G>A (p.Ala208Thr) variant EFO:0010736 obsolete_cortical surface area measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34560273 12847566 CV370498 NM_020408.6(LYRM4):c.31T>G (p.Ser11Ala) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36581621 12847941 CV377700 NM_001099922.3(ALG13):c.3414A>C (p.Ter1138Tyr) variant EFO:0009180 rosacea severity measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29771307 12848092 CV376938 NM_018993.4(RIN2):c.85G>A (p.Gly29Arg) variant EFO:0007984 platelet component distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 12849373 CV371260 NM_001371904.1(APOA5):c.289C>T (p.Gln97Ter) variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 12849373 CV371260 NM_001371904.1(APOA5):c.289C>T (p.Gln97Ter) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 12849443 CV363794 NM_000284.4(PDHA1):c.*1869G>C variant EFO:0004468 glucose measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 12849443 CV363794 NM_000284.4(PDHA1):c.*1869G>C variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39379762 12849886 CV227409 NM_000150.4(FUT6):c.945C>A (p.Tyr315Ter) variant EFO:0005127 cancer biomarker measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38626723 12850276 CV364129 NM_014495.4(ANGPTL3):c.379C>T (p.Leu127Phe) variant EFO:0020148 angiopoietin-related protein 3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 12883634 CV395624 NM_003227.4(TFR2):c.1767+7C>T variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 12888670 CV391356 NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys) variant EFO:0000612 myocardial infarction IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 12888670 CV391356 NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35884923 12888670 CV391356 NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35884923 12888670 CV391356 NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys) variant EFO:0005689 non-high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 12888670 CV391356 NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys) variant EFO:0007013 aspirin use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 12888670 CV391356 NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys) variant EFO:0007804 LDL cholesterol change measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26690388 12888670 CV391356 NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys) variant EFO:0009925 Antithrombotic agent use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 12888670 CV391356 NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys) variant EFO:0009926 Vasodilators used in cardiac diseases use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 12891044 CV395938 NM_003227.4(TFR2):c.590A>G (p.Tyr197Cys) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 12891044 CV395938 NM_003227.4(TFR2):c.590A>G (p.Tyr197Cys) variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 12891044 CV395938 NM_003227.4(TFR2):c.590A>G (p.Tyr197Cys) variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 12895762 CV390229 NM_001366385.1(CARD14):c.2458C>T (p.Arg820Trp) variant EFO:0020899 obsolete_flg gene expression measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34271060 12895778 CV389915 NM_017576.4(KIF27):c.1973G>A (p.Gly658Glu) variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 12895778 CV389915 NM_017576.4(KIF27):c.1973G>A (p.Gly658Glu) variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 12895778 CV389915 NM_017576.4(KIF27):c.1973G>A (p.Gly658Glu) variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 12895778 CV389915 NM_017576.4(KIF27):c.1973G>A (p.Gly658Glu) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 12895778 CV389915 NM_017576.4(KIF27):c.1973G>A (p.Gly658Glu) variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 12895783 CV389841 NM_000770.3(CYP2C8):c.168+669A>G variant EFO:0005116 urinary metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31959995 12895783 CV389841 NM_000770.3(CYP2C8):c.168+669A>G variant EFO:0800756 X-16087 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 12895783 CV389841 NM_000770.3(CYP2C8):c.168+669A>G variant EFO:0800893 X-24546 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 12895791 CV389758 NM_001290043.2(TAP2):c.1636-10T>C variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25811787 12895795 CV390347 NM_001283009.2(RTEL1):c.1992T>C (p.Asp664=) variant EFO:0000519 glioblastoma multiforme IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26424050 12895795 CV390347 NM_001283009.2(RTEL1):c.1992T>C (p.Asp664=) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 12895795 CV390347 NM_001283009.2(RTEL1):c.1992T>C (p.Asp664=) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 12895825 CV390260 NM_001127198.5(TMC6):c.373T>C (p.Trp125Arg) variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 12895825 CV390260 NM_001127198.5(TMC6):c.373T>C (p.Trp125Arg) variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 12895825 CV390260 NM_001127198.5(TMC6):c.373T>C (p.Trp125Arg) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 12895825 CV390260 NM_001127198.5(TMC6):c.373T>C (p.Trp125Arg) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 12895825 CV390260 NM_001127198.5(TMC6):c.373T>C (p.Trp125Arg) variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 12895825 CV390260 NM_001127198.5(TMC6):c.373T>C (p.Trp125Arg) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37090135 12895825 CV390260 NM_001127198.5(TMC6):c.373T>C (p.Trp125Arg) variant EFO:0007629 hemoglobin A1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 12895825 CV390260 NM_001127198.5(TMC6):c.373T>C (p.Trp125Arg) variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 12895832 CV389750 NM_001101648.2(NPC1L1):c.816C>G (p.Leu272=) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28334899 12895832 CV389750 NM_001101648.2(NPC1L1):c.816C>G (p.Leu272=) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30926973 12895833 CV389516 NM_145038.5(DRC1):c.1069A>G (p.Lys357Glu) variant EFO:0005131 HVA measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23319000 12895833 CV389516 NM_145038.5(DRC1):c.1069A>G (p.Lys357Glu) variant EFO:0005133 MHPG measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23319000 12895840 CV390564 NM_002422.5(MMP3):c.133A>G (p.Lys45Glu) variant EFO:OBA:2042390 level of stromelysin-1 in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 12895865 CV389842 NM_002424.3(MMP8):c.1348C>T (p.Gln450Ter) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 12895865 CV389842 NM_002424.3(MMP8):c.1348C>T (p.Gln450Ter) variant EFO:0008248 neutrophil collagenase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 12895885 CV389732 NM_002114.4(HIVEP1):c.5744A>G (p.Gln1915Arg) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36581621 12895906 CV389540 NM_001102416.3(KNG1):c.*1404C>T variant EFO:0004694 factor XI measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 12895906 CV389540 NM_001102416.3(KNG1):c.*1404C>T variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 12895906 CV389540 NM_001102416.3(KNG1):c.*1404C>T variant EFO:0008260 plasma kallikrein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 12895961 CV390058 NM_031471.6(FERMT3):c.1506C>T (p.Leu502=) variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 12895963 CV390447 NM_001288962.2(TRIP10):c.*71T>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 12895964 CV390461 NM_003823.4(TNFRSF6B):c.255A>G (p.Leu85=) variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 12895964 CV390461 NM_003823.4(TNFRSF6B):c.255A>G (p.Leu85=) variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 12895964 CV390461 NM_003823.4(TNFRSF6B):c.255A>G (p.Leu85=) variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 12895964 CV390461 NM_003823.4(TNFRSF6B):c.255A>G (p.Leu85=) variant EFO:0004627 IGF-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 12895964 CV390461 NM_003823.4(TNFRSF6B):c.255A>G (p.Leu85=) variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 12895964 CV390461 NM_003823.4(TNFRSF6B):c.255A>G (p.Leu85=) variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 12895970 CV390068 NM_001242.5(CD27):c.*15G>T variant EFO:MONDO:0005301 multiple sclerosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31604244 12895975 CV389726 NM_172166.4(MSH5):c.1716C>T (p.Thr572=) variant EFO:0000708 squamous cell lung carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32889700 12895975 CV389726 NM_172166.4(MSH5):c.1716C>T (p.Thr572=) variant EFO:0003060 non-small cell lung carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32889700 12895975 CV389726 NM_172166.4(MSH5):c.1716C>T (p.Thr572=) variant EFO:0007006 depressive symptom measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30643256 12895975 CV389726 NM_172166.4(MSH5):c.1716C>T (p.Thr572=) variant EFO:0007660 neuroticism measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30643256 12895975 CV389726 NM_172166.4(MSH5):c.1716C>T (p.Thr572=) variant EFO:0007869 wellbeing measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30643256 12895981 CV389811 NM_178425.4(HDAC9):c.1872A>G (p.Pro624=) variant EFO:0007955 obsolete_mouth morphology quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28441456 12895982 CV389568 NM_002207.3(ITGA9):c.1520G>A (p.Gly507Glu) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 12895982 CV389568 NM_002207.3(ITGA9):c.1520G>A (p.Gly507Glu) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 12895988 CV390121 NM_001372106.1(DNAH10):c.682T>C (p.Ser228Pro) variant EFO:0004466 obsolete_fasting blood insulin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39280063 12895988 CV390121 NM_001372106.1(DNAH10):c.682T>C (p.Ser228Pro) variant EFO:0004502 adiponectin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31178129 12896007 CV389666 NM_172166.4(MSH5):c.2148A>G (p.Gln716=) variant EFO:0004704 age at menopause IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26414677 12896010 CV389356 NM_001017365.3(C4BPB):c.410-9T>C variant EFO:0004572 C4BP measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:20212171 12896039 CV389345 NM_000715.4(C4BPA):c.899T>C (p.Ile300Thr) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 12896039 CV389345 NM_000715.4(C4BPA):c.899T>C (p.Ile300Thr) variant EFO:0801960 protein S100-A5 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 12896059 CV389504 NM_015690.5(STK36):c.1748G>A (p.Arg583Gln) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35964923 12896080 CV389690 NM_031900.4(AGXT2):c.1188+1G>A variant EFO:0010980 3-aminoisobutyrate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 12896111 CV390202 NM_000626.4(CD79B):c.366T>C (p.Cys122=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35831902 12896163 CV389738 NM_001290043.2(TAP2):c.2059T>C (p.Ter687Gln) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 12896203 CV390432 NM_002029.4(FPR1):c.301G>C (p.Val101Leu) variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 12896236 CV390036 NM_006531.5(IFT88):c.1122G>A (p.Met374Ile) variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39256582 12896266 CV389615 NM_198282.4(STING1):c.695A>G (p.His232Arg) variant EFO:1001898 mucositis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35039627 12896266 CV389615 NM_198282.4(STING1):c.695A>G (p.His232Arg) variant EFO:GO:0009314 response to radiation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35039627 12896276 CV390399 NM_001283009.2(RTEL1):c.2112C>T (p.Asp704=) variant EFO:0004505 obsolete_telomere length IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37216007 12896281 CV389853 NM_030974.4(SHARPIN):c.880C>T (p.Pro294Ser) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 12896314 CV389657 NM_005577.4(LPA):c.4289+1G>A variant EFO:0001645 coronary artery disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29212778 12896314 CV389657 NM_005577.4(LPA):c.4289+1G>A variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28512139 12896314 CV389657 NM_005577.4(LPA):c.4289+1G>A variant EFO:0006925 lipoprotein A measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28512139 12896319 CV390201 NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 12896345 CV389797 NM_000603.5(NOS3):c.2984+15A>G variant EFO:0004995 lean body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 12896348 CV390172 NM_033238.3(PML):c.1710+1245A>G variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 12896356 CV389348 NM_030787.4(CFHR5):c.1067G>A (p.Arg356His) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 12896356 CV389348 NM_030787.4(CFHR5):c.1067G>A (p.Arg356His) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 12896356 CV389348 NM_030787.4(CFHR5):c.1067G>A (p.Arg356His) variant EFO:0008098 complement factor H-related protein 5 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 12896356 CV389348 NM_030787.4(CFHR5):c.1067G>A (p.Arg356His) variant EFO:0021844 platelet-derived growth factor receptor alpha measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 12896365 CV389637 NM_015541.3(LRIG1):c.1843A>G (p.Met615Val) variant EFO:0000275 atrial fibrillation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29892015 12896365 CV389637 NM_015541.3(LRIG1):c.1843A>G (p.Met615Val) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36581621 12896365 CV389637 NM_015541.3(LRIG1):c.1843A>G (p.Met615Val) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 12896365 CV389637 NM_015541.3(LRIG1):c.1843A>G (p.Met615Val) variant EFO:0010736 obsolete_cortical surface area measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34910505 12896365 CV389637 NM_015541.3(LRIG1):c.1843A>G (p.Met615Val) variant EFO:OBA:2042226 level of leucine-rich repeats and immunoglobulin-like domains protein 1 in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 12896407 CV389468 NM_001228.5(CASP8):c.-26-8189A>G variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29083408 12896407 CV389468 NM_001228.5(CASP8):c.-26-8189A>G variant EFO:0009260 non-melanoma skin carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29739929 12896407 CV389468 NM_001228.5(CASP8):c.-26-8189A>G variant EFO:MONDO:0004992 cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33893285 12896440 CV389350 NM_001006658.3(CR2):c.3185C>A (p.Ala1062Glu) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 12896455 CV389336 NM_001136219.3(FCGR2A):c.187C>T (p.Gln63Ter) variant EFO:0000685 rheumatoid arthritis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35470158 12896455 CV389336 NM_001136219.3(FCGR2A):c.187C>T (p.Gln63Ter) variant EFO:0007791 rheumatoid factor seropositivity measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35470158 12896455 CV389336 NM_001136219.3(FCGR2A):c.187C>T (p.Gln63Ter) variant EFO:0009459 ACPA-positive rheumatoid arthritis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35470158 12896474 CV389850 NM_020863.4(ZFAT):c.1409C>G (p.Ser470Cys) variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33097823 12896494 CV389752 NC_000006.12:g.31764104C>T variant EFO:0009130 clostridium difficile infection IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39436105 12896515 CV389988 NM_001372106.1(DNAH10):c.842-16A>G variant EFO:0005409 obsolete_fat body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 12896529 CV389565 NM_032153.6(ZIC4):c.-15-1152G>A variant EFO:0004698 insomnia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35835914 12896529 CV389565 NM_032153.6(ZIC4):c.-15-1152G>A variant EFO:0010736 obsolete_cortical surface area measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32193296 12896547 CV390147 NM_002661.5(PLCG2):c.3093T>C (p.Asn1031=) variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 12896605 CV389552 NM_001768.7(CD8A):c.565T>C (p.Leu189=) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 12896605 CV389552 NM_001768.7(CD8A):c.565T>C (p.Leu189=) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32929287 12896606 CV390560 NM_002422.5(MMP3):c.1086T>C (p.Ala362=) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 12896637 CV390259 NM_001127198.5(TMC6):c.457C>T (p.Leu153Phe) variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 12896637 CV390259 NM_001127198.5(TMC6):c.457C>T (p.Leu153Phe) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 12896637 CV390259 NM_001127198.5(TMC6):c.457C>T (p.Leu153Phe) variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 12896637 CV390259 NM_001127198.5(TMC6):c.457C>T (p.Leu153Phe) variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 12896637 CV390259 NM_001127198.5(TMC6):c.457C>T (p.Leu153Phe) variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 12896683 CV389431 NM_001350197.2(EVI5):c.1884G>T (p.Gln628His) variant EFO:0007790 Epstein Barr virus nuclear antigen 1 IgG measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26819262 12896683 CV389431 NM_001350197.2(EVI5):c.1884G>T (p.Gln628His) variant EFO:MONDO:0005301 multiple sclerosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26819262 12896697 CV389798 NM_002003.5(FCN1):c.802T>C (p.Ser268Pro) variant EFO:0803547 monocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 12896705 CV390173 NM_033238.3(PML):c.1710+1270G>T variant EFO:0004698 insomnia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35835914 12896705 CV390173 NM_033238.3(PML):c.1710+1270G>T variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 12896712 CV390460 NM_001283009.2(RTEL1):c.3499+5G>T variant EFO:0000571 lung adenocarcinoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39366959 12896724 CV389708 NM_001737.5(C9):c.13C>T (p.Arg5Trp) variant EFO:0004995 lean body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 12896738 CV389314 NM_005101.4(ISG15):c.248G>A (p.Ser83Asn) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 12896738 CV389314 NM_005101.4(ISG15):c.248G>A (p.Ser83Asn) variant EFO:0021875 ubiquitin-like protein ISG15 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 12896765 CV390060 NM_005419.4(STAT2):c.1782G>C (p.Met594Ile) variant EFO:0000676 psoriasis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25903422 12896765 CV390060 NM_005419.4(STAT2):c.1782G>C (p.Met594Ile) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35831902 12896774 CV390263 NM_152468.5(TMC8):c.917A>T (p.Asn306Ile) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 12896835 CV390002 NM_001372106.1(DNAH10):c.10722+4T>C variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 12896835 CV390002 NM_001372106.1(DNAH10):c.10722+4T>C variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 12896856 CV389741 NM_000593.6(TAP1):c.-34G>A variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 12896856 CV389741 NM_000593.6(TAP1):c.-34G>A variant EFO:HP:0000155 Oral ulcer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30837455 12896869 CV389609 NM_001364905.1(LRBA):c.8393C>T (p.Ser2798Leu) variant EFO:0004210 gallstones IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34651315 12896869 CV389609 NM_001364905.1(LRBA):c.8393C>T (p.Ser2798Leu) variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 12896869 CV389609 NM_001364905.1(LRBA):c.8393C>T (p.Ser2798Leu) variant EFO:0004312 vital capacity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36914875 12896869 CV389609 NM_001364905.1(LRBA):c.8393C>T (p.Ser2798Leu) variant EFO:0004460 soluble transferrin receptor measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39643614 12896869 CV389609 NM_001364905.1(LRBA):c.8393C>T (p.Ser2798Leu) variant EFO:0004464 obsolete_brain measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34910505 12896869 CV389609 NM_001364905.1(LRBA):c.8393C>T (p.Ser2798Leu) variant EFO:0004741 blood urea nitrogen measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 12896869 CV389609 NM_001364905.1(LRBA):c.8393C>T (p.Ser2798Leu) variant EFO:0004799 cholelithiasis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 12896869 CV389609 NM_001364905.1(LRBA):c.8393C>T (p.Ser2798Leu) variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 12896869 CV389609 NM_001364905.1(LRBA):c.8393C>T (p.Ser2798Leu) variant EFO:HP:0001082 Cholecystitis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 12896876 CV389993 NM_001372106.1(DNAH10):c.5525C>T (p.Thr1842Met) variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 12896942 CV389339 NM_001136219.3(FCGR2A):c.188A>G (p.Gln63Arg) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32327693 12896961 CV389380 NM_002497.4(NEK2):c.504T>C (p.His168=) variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28957414 12896961 CV389380 NM_002497.4(NEK2):c.504T>C (p.His168=) variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28957414 12905799 CV413339 NM_006262.4(PRPH):c.996+1G>A variant EFO:0010070 nerve conduction amplitude IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30992453 12911310 CV416932 NM_031900.4(AGXT2):c.418G>A (p.Val140Ile) variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 12911310 CV416932 NM_031900.4(AGXT2):c.418G>A (p.Val140Ile) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32778093 12911310 CV416932 NM_031900.4(AGXT2):c.418G>A (p.Val140Ile) variant EFO:0005116 urinary metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26352407 12911310 CV416932 NM_031900.4(AGXT2):c.418G>A (p.Val140Ile) variant EFO:0005418 obsolete_serum dimethylarginine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24159190 12911310 CV416932 NM_031900.4(AGXT2):c.418G>A (p.Val140Ile) variant EFO:0006523 symmetrical dimethylarginine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35120996 12911310 CV416932 NM_031900.4(AGXT2):c.418G>A (p.Val140Ile) variant EFO:0010464 beta-aminoisobutyric acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37120436 12911310 CV416932 NM_031900.4(AGXT2):c.418G>A (p.Val140Ile) variant EFO:0010468 carboxylic acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35120996 12911310 CV416932 NM_031900.4(AGXT2):c.418G>A (p.Val140Ile) variant EFO:0010980 3-aminoisobutyrate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 12911310 CV416932 NM_031900.4(AGXT2):c.418G>A (p.Val140Ile) variant EFO:0021125 N2,N2-dimethylguanosine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 12911310 CV416932 NM_031900.4(AGXT2):c.418G>A (p.Val140Ile) variant EFO:0800008 5-aminovalerate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 12911310 CV416932 NM_031900.4(AGXT2):c.418G>A (p.Val140Ile) variant EFO:0800037 dimethylarginine (SDMA + ADMA) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 12911310 CV416932 NM_031900.4(AGXT2):c.418G>A (p.Val140Ile) variant EFO:0800706 X-12117 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 12911310 CV416932 NM_031900.4(AGXT2):c.418G>A (p.Val140Ile) variant EFO:0800707 X-12125 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 12911310 CV416932 NM_031900.4(AGXT2):c.418G>A (p.Val140Ile) variant EFO:0800890 X-24518 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 12911310 CV416932 NM_031900.4(AGXT2):c.418G>A (p.Val140Ile) variant EFO:0801158 DMGV measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35995766 12911312 CV417247 NC_000020.11:g.7125642T>C variant EFO:0700076 isolated scaphocephaly IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23160099 12911312 CV417247 NC_000020.11:g.7125642T>C variant EFO:MONDO:0015337 isolated craniosynostosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32266521 13207603 CV359038 NM_005527.4(HSPA1L):c.1673A>C (p.Glu558Ala) variant EFO:0008140 gp41 C34 peptide, HIV measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28240269 13207603 CV359038 NM_005527.4(HSPA1L):c.1673A>C (p.Glu558Ala) variant EFO:0008248 neutrophil collagenase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28240269 13211127 CV362289 NM_198253.3(TERT):c.1574-3777G>T variant EFO:0000768 idiopathic pulmonary fibrosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:18835860 13211127 CV362289 NM_198253.3(TERT):c.1574-3777G>T variant EFO:0004244 interstitial lung disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23583980 13211127 CV362289 NM_198253.3(TERT):c.1574-3777G>T variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 13211127 CV362289 NM_198253.3(TERT):c.1574-3777G>T variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28017375 13211127 CV362289 NM_198253.3(TERT):c.1574-3777G>T variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 13211127 CV362289 NM_198253.3(TERT):c.1574-3777G>T variant EFO:0007989 monocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13211127 CV362289 NM_198253.3(TERT):c.1574-3777G>T variant EFO:0022597 aging IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34187551 13211127 CV362289 NM_198253.3(TERT):c.1574-3777G>T variant EFO:1000566 Testicular Germ Cell Tumor IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28604728 13211133 CV362287 NM_018657.5(MYNN):c.18C>T (p.His6=) variant EFO:0004505 obsolete_telomere length IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23535734 13211133 CV362287 NM_018657.5(MYNN):c.18C>T (p.His6=) variant EFO:MONDO:0005575 colorectal cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36539618 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:0000095 chronic lymphocytic leukemia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31407831 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:0000305 breast carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29059683 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:0000326 central nervous system cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26424050 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:0000519 glioblastoma multiforme IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28346443 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:0000731 uterine fibroid IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30194396 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:0001075 ovarian carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28346442 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:0002892 thyroid carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28195142 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:0004536 total blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:0004568 obsolete_serum non-albumin protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:0004847 age at onset IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30152087 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:0005537 triple-negative breast cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38741014 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:0005543 glioma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28346443 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35762941 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35762941 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:0006340 mean arterial pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:0009448 pulmonary fibrosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:1000650 estrogen-receptor negative breast cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29058716 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:1001516 ovarian serous carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28346442 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:1001958 high grade ovarian serous adenocarcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38723632 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:HP:0000131 Uterine leiomyoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35803233 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:MONDO:0007254 breast cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38741014 13211237 CV227598 NM_198253.3(TERT):c.1951-205G>A variant EFO:MONDO:0007915 systemic lupus erythematosus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31407831 13211254 CV362290 NM_198253.2(TERT):c.-1382T>C variant EFO:0005406 colorectal adenoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30510241 13211254 CV362290 NM_198253.2(TERT):c.-1382T>C variant EFO:MONDO:0005575 colorectal cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36539618 13211283 CV425012 NM_000384.3(APOB):c.2863C>T (p.Pro955Ser) variant EFO:0000612 myocardial infarction IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13211283 CV425012 NM_000384.3(APOB):c.2863C>T (p.Pro955Ser) variant EFO:0003913 angina pectoris IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13211283 CV425012 NM_000384.3(APOB):c.2863C>T (p.Pro955Ser) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333282 13211283 CV425012 NM_000384.3(APOB):c.2863C>T (p.Pro955Ser) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333282 13211283 CV425012 NM_000384.3(APOB):c.2863C>T (p.Pro955Ser) variant EFO:0009926 Vasodilators used in cardiac diseases use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13211283 CV425012 NM_000384.3(APOB):c.2863C>T (p.Pro955Ser) variant EFO:0009932 HMG CoA reductase inhibitor use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13211399 CV426281 NM_000121.4(EPOR):c.244C>T (p.Gln82Ter) variant EFO:0008391 erythropoetin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30271932 13212734 CV426889 NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13212734 CV426889 NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 13212734 CV426889 NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32327693 13212734 CV426889 NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32042192 13212734 CV426889 NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) variant EFO:0004838 calcium measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13212734 CV426889 NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 13214823 CV429714 NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr) variant EFO:0011013 vaginal microbiome measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34282934 13214860 CV429234 NC_000011.10:g.2161289T>C variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30297969 13214947 CV428744 NM_001395413.1(POR):c.674C>T (p.Pro225Leu) variant EFO:0004908 testosterone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13214947 CV428744 NM_001395413.1(POR):c.674C>T (p.Pro225Leu) variant EFO:0800301 16a-hydroxy DHEA 3-sulfate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 13214947 CV428744 NM_001395413.1(POR):c.674C>T (p.Pro225Leu) variant EFO:0800305 andro steroid monosulfate C19H28O6S (1) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 13215019 CV429366 NM_001987.5(ETV6):c.602T>C (p.Leu201Pro) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 13215019 CV429366 NM_001987.5(ETV6):c.602T>C (p.Leu201Pro) variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13215019 CV429366 NM_001987.5(ETV6):c.602T>C (p.Leu201Pro) variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 13215019 CV429366 NM_001987.5(ETV6):c.602T>C (p.Leu201Pro) variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13215160 CV428667 NM_015450.3(POT1):c.1228G>C (p.Asp410His) variant EFO:0000731 uterine fibroid IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13215160 CV428667 NM_015450.3(POT1):c.1228G>C (p.Asp410His) variant EFO:0004505 obsolete_telomere length IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33941849 13435858 CV433361 NM_030943.4(AMN):c.1170-37C>G variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 13435865 CV433958 NM_001062.4(TCN1):c.901G>T (p.Asp301Tyr) variant EFO:0004620 vitamin B12 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28334792 13435865 CV433958 NM_001062.4(TCN1):c.901G>T (p.Asp301Tyr) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 13435865 CV433958 NM_001062.4(TCN1):c.901G>T (p.Asp301Tyr) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 13435865 CV433958 NM_001062.4(TCN1):c.901G>T (p.Asp301Tyr) variant EFO:0802138 transcobalamin-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 13436026 CV433637 NM_020070.4(IGLL1):c.485T>A (p.Met162Lys) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 13436116 CV433072 NM_000314.8(PTEN):c.80-96A>G variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13436297 CV433786 NM_002626.6(PFKL):c.710A>T (p.Asp237Val) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13436416 CV433296 NM_000208.4(INSR):c.1861+27C>T variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 13436443 CV433193 NM_001009944.3(PKD1):c.8016+26T>C variant EFO:0004464 obsolete_brain measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34910505 13436506 CV433399 NC_000023.11:g.136648058A>C variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13436506 CV433399 NC_000023.11:g.136648058A>C variant EFO:0007985 platelet crit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13436512 CV434015 NM_019076.5(UGT1A8):c.856-73489A>G variant EFO:0004570 bilirubin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30621171 13436608 CV433711 NM_000431.4(MVK):c.79-164T>G variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333282 13436608 CV433711 NM_000431.4(MVK):c.79-164T>G variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35884923 13436717 CV433369 NM_000051.4(ATM):c.3078-77C>T variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 13436820 CV433713 NM_000431.4(MVK):c.885+24G>A variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13436823 CV433825 NM_002661.5(PLCG2):c.1565C>G (p.Pro522Arg) variant EFO:MONDO:0004975 Alzheimer disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35379992 13436832 CV432860 NM_000517.6(HBA2):c.*107A>G variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13436832 CV432860 NM_000517.6(HBA2):c.*107A>G variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13436832 CV432860 NM_000517.6(HBA2):c.*107A>G variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13436832 CV432860 NM_000517.6(HBA2):c.*107A>G variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13436929 CV433899 NM_016038.4(SBDS):c.129-160T>G variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 13437119 CV433853 NM_001084.5(PLOD3):c.1144G>C (p.Asp382His) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 13437195 CV434013 NM_019076.5(UGT1A8):c.856-73715A>G variant EFO:0004799 cholelithiasis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13437195 CV434013 NM_019076.5(UGT1A8):c.856-73715A>G variant EFO:0010551 xanthurenate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 13437195 CV434013 NM_019076.5(UGT1A8):c.856-73715A>G variant EFO:0801036 sulfate of piperine metabolite C18H21NO3 (1) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 13437195 CV434013 NM_019076.5(UGT1A8):c.856-73715A>G variant EFO:0801060 N-acetyl-4-chlorophenylalanine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 13437560 CV434132 NM_174936.3(PCSK9):c.-861G>A variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28334899 13437560 CV434132 NM_174936.3(PCSK9):c.-861G>A variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30926973 13437560 CV434132 NM_174936.3(PCSK9):c.-861G>A variant EFO:0006899 PCSK9 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29748315 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0000537 hypertension IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0004274 gout IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39406924 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0004312 vital capacity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36914875 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0004344 birth weight IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31043758 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0004464 obsolete_brain measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34910505 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0004568 obsolete_serum non-albumin protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0004570 bilirubin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32042192 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0004735 serum alanine aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0004761 uric acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0004840 cortical thickness IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34560273 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0004908 testosterone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32042192 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0007629 hemoglobin A1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0009928 Diuretic use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31015401 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0009930 Calcium channel blocker use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31015401 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0009931 Agents acting on the renin-angiotensin system use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31015401 13462138 CV438761 NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) variant EFO:0010736 obsolete_cortical surface area measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34910505 13462189 CV438917 NM_018965.4(TREM2):c.185G>A (p.Arg62His) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 13462189 CV438917 NM_018965.4(TREM2):c.185G>A (p.Arg62His) variant EFO:0009268 family history of Alzheimer’s disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30617256 13462189 CV438917 NM_018965.4(TREM2):c.185G>A (p.Arg62His) variant EFO:1001870 late-onset Alzheimers disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28714976 13462189 CV438917 NM_018965.4(TREM2):c.185G>A (p.Arg62His) variant EFO:MONDO:0004975 Alzheimer disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30617256 13462408 CV439218 NM_016327.3(UPB1):c.917-1G>A variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13462408 CV439218 NM_016327.3(UPB1):c.917-1G>A variant EFO:0010641 3-ureidopropionate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 13462856 CV439068 NM_007374.3(SIX6):c.385G>A (p.Glu129Lys) variant EFO:MONDO:0004892 refractive error IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35022715 13462874 CV438780 NM_004667.6(HERC2):c.10969G>A (p.Val3657Ile) variant EFO:0007822 obsolete_hair colour measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34737426 13462920 CV439179 NM_001737.5(C9):c.379G>T (p.Asp127Tyr) variant EFO:0020282 complement component C9 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 13462920 CV439179 NM_001737.5(C9):c.379G>T (p.Asp127Tyr) variant EFO:OBA:2040192 level of CREB-binding protein in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 13462920 CV439179 NM_001737.5(C9):c.379G>T (p.Asp127Tyr) variant EFO:OBA:2040671 level of ADP-ribosylation factor-like protein 5B in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 13464425 CV467600 NM_152468.5(TMC8):c.1168G>A (p.Val390Ile) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13465479 CV458868 NM_052844.4(DYNC2I2):c.187-3C>A variant EFO:0005318 axial length measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24144296 13465483 CV465178 NM_005154.5(USP8):c.1328A>G (p.Asp443Gly) variant EFO:0007989 monocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13467110 CV468200 NM_003331.5(TYK2):c.3488A>G (p.Glu1163Gly) variant EFO:0004520 ICAM-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 13467222 CV470310 NM_001271938.2(MEGF8):c.4713C>T (p.Ala1571=) variant EFO:MONDO:0001703 color vision disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37359372 13468054 CV470875 NM_015352.2(POFUT1):c.964C>T (p.Leu322Phe) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 13468633 CV468964 NM_006270.5(RRAS):c.397G>A (p.Asp133Asn) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27618447 13468633 CV468964 NM_006270.5(RRAS):c.397G>A (p.Asp133Asn) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27618447 13471852 CV455885 NM_001384732.1(CPLANE1):c.8287G>A (p.Glu2763Lys) variant EFO:0000183 Hodgkins lymphoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34216518 13475156 CV455223 NM_005921.2(MAP3K1):c.764A>G (p.Asn255Ser) variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 13475156 CV455223 NM_005921.2(MAP3K1):c.764A>G (p.Asn255Ser) variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 13475905 CV448756 NM_022168.4(IFIH1):c.2767A>G (p.Ile923Val) variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 13475905 CV448756 NM_022168.4(IFIH1):c.2767A>G (p.Ile923Val) variant EFO:0006812 autoimmune thyroid disease IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37002690 13478681 CV448759 NM_173842.3(IL1RN):c.370G>A (p.Ala124Thr) variant EFO:0004754 interleukin 1 receptor antagonist measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 13479053 CV448350 NM_001256864.2(DNAJC6):c.678G>A (p.Ala226=) variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13479937 CV466806 NM_002661.5(PLCG2):c.731A>G (p.His244Arg) variant EFO:0004568 obsolete_serum non-albumin protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13479937 CV466806 NM_002661.5(PLCG2):c.731A>G (p.His244Arg) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32929287 13480121 CV455652 NM_003190.5(TAPBP):c.1252C>T (p.Leu418=) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 13480121 CV455652 NM_003190.5(TAPBP):c.1252C>T (p.Leu418=) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 13480121 CV455652 NM_003190.5(TAPBP):c.1252C>T (p.Leu418=) variant EFO:0802118 tapasin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 13480204 CV445286 NM_004667.6(HERC2):c.12697T>A (p.Ser4233Thr) variant EFO:1000786 osteoarthritis, hip IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29436472 13481255 CV460011 NM_032776.3(JMJD1C):c.1771A>G (p.Met591Val) variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13481255 CV460011 NM_032776.3(JMJD1C):c.1771A>G (p.Met591Val) variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 13481606 CV442261 NM_032551.5(KISS1R):c.1091T>A (p.Leu364His) variant EFO:0010156 sweet liking measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32572145 13483904 CV447439 NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn) variant EFO:0006794 obsolete_cerebrospinal fluid biomarker measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528826 13483904 CV447439 NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn) variant EFO:0800136 S-1-pyrroline-5-carboxylate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 13483904 CV447439 NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn) variant EFO:0800785 X-17676 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 13484226 CV442316 NM_001379500.1(COL18A1):c.107-12381G>A variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30275531 13484226 CV442316 NM_001379500.1(COL18A1):c.107-12381G>A variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37669986 13484535 CV443176 NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) variant EFO:0010967 urinary microalbumin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13485167 CV440346 NM_006623.4(PHGDH):c.792+6T>G variant EFO:1002009 macular telangiectasia type 2 IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33654266 13486434 CV461713 NM_001062.4(TCN1):c.104G>A (p.Arg35His) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 13486434 CV461713 NM_001062.4(TCN1):c.104G>A (p.Arg35His) variant EFO:0802138 transcobalamin-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 13486601 CV456424 NM_015450.3(POT1):c.977T>C (p.Val326Ala) variant EFO:0001071 lung carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32514122 13489753 CV447134 NM_005060.4(RORC):c.28C>T (p.Arg10Ter) variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13491072 CV447720 NM_198173.3(GRHL3):c.1361C>T (p.Thr454Met) variant EFO:HP:0000175 Cleft palate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27018472 13491999 CV456499 NM_003227.4(TFR2):c.1127C>A (p.Ala376Asp) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13491999 CV456499 NM_003227.4(TFR2):c.1127C>A (p.Ala376Asp) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13492166 CV448246 NM_174936.4(PCSK9):c.757C>T (p.Leu253Phe) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30275531 13492166 CV448246 NM_174936.4(PCSK9):c.757C>T (p.Leu253Phe) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30275531 13492906 CV451499 NM_003183.6(ADAM17):c.148A>G (p.Ile50Val) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 13494031 CV460882 NM_032776.3(JMJD1C):c.1547C>G (p.Thr516Ser) variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13494359 CV452231 NM_139125.4(MASP1):c.1277G>A (p.Gly426Glu) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 13494540 CV466835 NM_002163.4(IRF8):c.432C>T (p.Asp144=) variant EFO:0005666 obsolete_thyroid peroxidase antibody measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31794020 13494540 CV466835 NM_002163.4(IRF8):c.432C>T (p.Asp144=) variant EFO:0009896 obsolete_anti-thyroglobulin antibody measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31794020 13494740 CV463854 NM_001329943.3(KIAA0586):c.3719T>C (p.Leu1240Ser) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36581621 13494792 CV465938 NM_138713.4(NFAT5):c.3752A>G (p.Gln1251Arg) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36581621 13494792 CV465938 NM_138713.4(NFAT5):c.3752A>G (p.Gln1251Arg) variant EFO:0004617 cystatin C measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13495072 CV466967 NM_002386.4(MC1R):c.917G>A (p.Arg306His) variant EFO:0003924 hair color IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30531825 13495072 CV466967 NM_002386.4(MC1R):c.917G>A (p.Arg306His) variant EFO:0007822 obsolete_hair colour measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34737426 13496355 CV460836 NM_032776.3(JMJD1C):c.5939C>T (p.Pro1980Leu) variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13496355 CV460836 NM_032776.3(JMJD1C):c.5939C>T (p.Pro1980Leu) variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13496978 CV456370 NM_003190.5(TAPBP):c.1239C>T (p.Ser413=) variant EFO:OBA:2043775 level of tapasin in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 13497788 CV468922 NM_152468.5(TMC8):c.1571C>T (p.Pro524Leu) variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13497788 CV468922 NM_152468.5(TMC8):c.1571C>T (p.Pro524Leu) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13497788 CV468922 NM_152468.5(TMC8):c.1571C>T (p.Pro524Leu) variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13497788 CV468922 NM_152468.5(TMC8):c.1571C>T (p.Pro524Leu) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13497788 CV468922 NM_152468.5(TMC8):c.1571C>T (p.Pro524Leu) variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13497788 CV468922 NM_152468.5(TMC8):c.1571C>T (p.Pro524Leu) variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 13497788 CV468922 NM_152468.5(TMC8):c.1571C>T (p.Pro524Leu) variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 13497788 CV468922 NM_152468.5(TMC8):c.1571C>T (p.Pro524Leu) variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13498078 CV468919 NM_152468.5(TMC8):c.1024G>T (p.Gly342Trp) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13499546 CV471486 NM_001283009.2(RTEL1):c.2051G>A (p.Arg684Gln) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13499546 CV471486 NM_001283009.2(RTEL1):c.2051G>A (p.Arg684Gln) variant EFO:0010819 clonal hematopoiesis IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37932435 13499870 CV470465 NM_001011551.3(C1GALT1C1):c.428C>T (p.Ala143Val) variant EFO:0801437 C1GALT1-specific chaperone 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 13500896 CV455627 NM_000593.6(TAP1):c.1255G>T (p.Gly419Cys) variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35995766 13501413 CV469911 NM_020070.4(IGLL1):c.475G>A (p.Gly159Ser) variant EFO:0801688 immunoglobulin lambda-like polypeptide 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 13503442 CV457595 NM_018051.5(DYNC2I1):c.1791+5A>G variant EFO:1000886 cutaneous mastocytosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32752121 13508979 CV482274 NM_004996.4(ABCC1):c.1299G>T (p.Arg433Ser) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13508979 CV482274 NM_004996.4(ABCC1):c.1299G>T (p.Arg433Ser) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13508979 CV482274 NM_004996.4(ABCC1):c.1299G>T (p.Arg433Ser) variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 13508979 CV482274 NM_004996.4(ABCC1):c.1299G>T (p.Arg433Ser) variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 13508979 CV482274 NM_004996.4(ABCC1):c.1299G>T (p.Arg433Ser) variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 13508979 CV482274 NM_004996.4(ABCC1):c.1299G>T (p.Arg433Ser) variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13508979 CV482274 NM_004996.4(ABCC1):c.1299G>T (p.Arg433Ser) variant EFO:0021001 cysteine-glutathione disulfide measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 13508979 CV482274 NM_004996.4(ABCC1):c.1299G>T (p.Arg433Ser) variant EFO:0021042 octanoylcarnitine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 13508979 CV482274 NM_004996.4(ABCC1):c.1299G>T (p.Arg433Ser) variant EFO:0021137 gamma-glutamylglutamate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 13508979 CV482274 NM_004996.4(ABCC1):c.1299G>T (p.Arg433Ser) variant EFO:0021138 gamma-glutamylglutamine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 13508979 CV482274 NM_004996.4(ABCC1):c.1299G>T (p.Arg433Ser) variant EFO:0021141 gamma-glutamylmethionine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 13508979 CV482274 NM_004996.4(ABCC1):c.1299G>T (p.Arg433Ser) variant EFO:0800049 cysteinylglycine disulfide measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 13508979 CV482274 NM_004996.4(ABCC1):c.1299G>T (p.Arg433Ser) variant EFO:0800122 cys-gly, oxidized measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 13508979 CV482274 NM_004996.4(ABCC1):c.1299G>T (p.Arg433Ser) variant EFO:0800133 cysteinylglycine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 13508979 CV482274 NM_004996.4(ABCC1):c.1299G>T (p.Arg433Ser) variant EFO:0800674 gamma-glutamyl-2-aminobutyrate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 13508979 CV482274 NM_004996.4(ABCC1):c.1299G>T (p.Arg433Ser) variant EFO:0800691 gamma-glutamylhistidine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 13508979 CV482274 NM_004996.4(ABCC1):c.1299G>T (p.Arg433Ser) variant EFO:0800750 X-15469 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 13515928 CV489073 NM_012188.5(FOXI1):c.677C>T (p.Thr226Ile) variant EFO:0021537 transferrin glycosylation measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35332118 13516368 CV491702 NM_001015880.2(PAPSS2):c.886G>A (p.Val296Met) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 13517268 CV492885 NM_003049.4(SLC10A1):c.800C>T (p.Ser267Phe) variant EFO:0010492 glycocholic acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33634981 13517268 CV492885 NM_003049.4(SLC10A1):c.800C>T (p.Ser267Phe) variant EFO:0020050 obsolete_bile acid measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38297123 13518203 CV490695 NM_020812.4(DOCK6):c.5582G>A (p.Arg1861His) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13518203 CV490695 NM_020812.4(DOCK6):c.5582G>A (p.Arg1861His) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13519581 CV486967 NM_006506.5(RASA2):c.2016T>C (p.Asn672=) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29273807 13520203 CV487403 NM_001371904.1(APOA5):c.132C>A (p.Ile44=) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35945198 13521251 CV487488 NM_001371904.1(APOA5):c.457G>A (p.Val153Met) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 13521434 CV487850 NM_001283009.2(RTEL1):c.958+18C>T variant EFO:0004505 obsolete_telomere length IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31171785 13522130 CV493110 NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys) variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13522130 CV493110 NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13522130 CV493110 NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13522130 CV493110 NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys) variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13522130 CV493110 NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys) variant EFO:0004617 cystatin C measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13522130 CV493110 NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys) variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13522130 CV493110 NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys) variant EFO:0007989 monocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13522130 CV493110 NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys) variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13522142 CV490237 NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13522142 CV490237 NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13526146 CV503179 NM_178138.6(LHX3):c.-40A>C variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 13526203 CV502636 NM_001347995.2(ENTREP1):c.711+7C>G variant EFO:MONDO:0005575 colorectal cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 13526768 CV497307 NM_004230.4(S1PR2):c.857T>C (p.Val286Ala) variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13526768 CV497307 NM_004230.4(S1PR2):c.857T>C (p.Val286Ala) variant EFO:0005091 monocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 13526768 CV497307 NM_004230.4(S1PR2):c.857T>C (p.Val286Ala) variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13526768 CV497307 NM_004230.4(S1PR2):c.857T>C (p.Val286Ala) variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13527090 CV497034 NM_032229.3(SLITRK6):c.1241A>G (p.Gln414Arg) variant EFO:MONDO:0001703 color vision disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37359372 13528144 CV508786 NM_198241.3(EIF4G1):c.3325+16C>T variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35710981 13528144 CV508786 NM_198241.3(EIF4G1):c.3325+16C>T variant EFO:0011013 vaginal microbiome measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34282934 13528144 CV508786 NM_198241.3(EIF4G1):c.3325+16C>T variant EFO:0011015 educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35361970 13528475 CV508787 NM_198241.3(EIF4G1):c.3953+9A>G variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13528475 CV508787 NM_198241.3(EIF4G1):c.3953+9A>G variant EFO:0004703 age at menarche IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25231870 13528574 CV508915 NM_020812.4(DOCK6):c.3507A>T (p.Leu1169=) variant EFO:0008592 obsolete_hdl particle size measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 13528574 CV508915 NM_020812.4(DOCK6):c.3507A>T (p.Leu1169=) variant EFO:0020946 phospholipids:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 13528615 CV508890 NM_001113491.2(SEPTIN9):c.77-28563T>C variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13528615 CV508890 NM_001113491.2(SEPTIN9):c.77-28563T>C variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 13528615 CV508890 NM_001113491.2(SEPTIN9):c.77-28563T>C variant EFO:0007993 lymphocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13528889 CV508843 NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn) variant EFO:0004352 mortality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27639821 13531578 CV497767 NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) variant EFO:0005782 age-related hearing impairment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34108613 13531858 CV496315 NM_005141.5(FGB):c.794C>T (p.Pro265Leu) variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 13531858 CV496315 NM_005141.5(FGB):c.794C>T (p.Pro265Leu) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29083408 13531858 CV496315 NM_005141.5(FGB):c.794C>T (p.Pro265Leu) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 13531858 CV496315 NM_005141.5(FGB):c.794C>T (p.Pro265Leu) variant EFO:0004623 obsolete_fibrinogen measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26561523 13531858 CV496315 NM_005141.5(FGB):c.794C>T (p.Pro265Leu) variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13531858 CV496315 NM_005141.5(FGB):c.794C>T (p.Pro265Leu) variant EFO:0005689 non-high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 13532214 CV501377 NM_018429.3(BDP1):c.2164A>G (p.Lys722Glu) variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13533790 CV508921 NM_000479.5(AMH):c.146G>T (p.Ser49Ile) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27618447 13533815 CV508928 NM_000894.3(LHB):c.114C>G (p.Val38=) variant EFO:0004908 testosterone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32042192 13534615 CV505951 NM_001080779.2(MYO1C):c.2477A>G (p.Gln826Arg) variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13534615 CV505951 NM_001080779.2(MYO1C):c.2477A>G (p.Gln826Arg) variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 13534615 CV505951 NM_001080779.2(MYO1C):c.2477A>G (p.Gln826Arg) variant EFO:0007988 obsolete_myeloid white cell count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0007577 obsolete_blood cobalt measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0007583 obsolete_blood nickel measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0007886 DDT metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0008360 environmental exposure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0022052 2,4,5-trichlorophenol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0022053 4,6-dinitro-o-cresol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0022054 aldrin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0022055 azinphos methyl measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0022056 cadmium chloride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0022057 chlorpyrifos measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0022058 dibutyl phthalate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0022059 diazinon measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0022060 dicofol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0022061 dieldrin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0022062 disulfoton measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0022063 endosulfan measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0022064 endrin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0022065 ethion measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0022066 heptachlor measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0022067 heptachlor epoxide measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0022068 mercuric chloride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0022069 methoxychlor measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0022070 parathion measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0022071 pentachlorophenol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13534980 CV496129 NM_003672.4(CDC14A):c.903T>C (p.His301=) variant EFO:0022072 potassium chromate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 13536500 CV507233 NM_012335.4(MYO1F):c.232-6T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 13537245 CV500921 NM_018429.3(BDP1):c.5916C>A (p.Ile1972=) variant EFO:0003939 energy intake IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23251661 13538140 CV506224 NM_002615.7(SERPINF1):c.-9+17G>A variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 13538140 CV506224 NM_002615.7(SERPINF1):c.-9+17G>A variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 13538140 CV506224 NM_002615.7(SERPINF1):c.-9+17G>A variant EFO:0021847 pigment epithelium-derived factor measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 13538342 CV496911 NM_016929.5(CLIC5):c.293C>A (p.Pro98His) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 13538342 CV496911 NM_016929.5(CLIC5):c.293C>A (p.Pro98His) variant EFO:0801472 chloride intracellular channel protein 5 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 13538437 CV506175 NM_004422.3(DVL2):c.621C>T (p.Ser207=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 13540343 CV508147 NM_001039141.3(TRIOBP):c.3559T>C (p.Phe1187Leu) variant EFO:0005782 age-related hearing impairment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34108613 13541128 CV505610 NM_024307.3(GDPD3):c.819+9G>T variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35762941 13592758 CV497508 NM_004230.4(S1PR2):c.919A>C (p.Arg307=) variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13592758 CV497508 NM_004230.4(S1PR2):c.919A>C (p.Arg307=) variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 13592758 CV497508 NM_004230.4(S1PR2):c.919A>C (p.Arg307=) variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13592758 CV497508 NM_004230.4(S1PR2):c.919A>C (p.Arg307=) variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13592876 CV508859 NM_000040.3(APOC3):c.102T>C (p.Gly34=) variant EFO:0010230 phosphatidylinositol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31551469 13607335 CV437771 NC_000020.11:g.45254192G>A variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 13612488 CV526178 NM_000360.4(TH):c.312+289G>C variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 13612488 CV526178 NM_000360.4(TH):c.312+289G>C variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 13612488 CV526178 NM_000360.4(TH):c.312+289G>C variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13616904 CV534015 NM_000214.3(JAG1):c.440-173C>T variant EFO:0003923 obsolete_bone density IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:20096396 13618038 CV520079 NM_000027.4(AGA):c.313C>A (p.Leu105Ile) variant EFO:0010462 aspartate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 13620834 CV528040 NM_001805.4(CEBPE):c.463C>A (p.Leu155Met) variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13620834 CV528040 NM_001805.4(CEBPE):c.463C>A (p.Leu155Met) variant EFO:0007989 monocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 13620834 CV528040 NM_001805.4(CEBPE):c.463C>A (p.Leu155Met) variant EFO:0007991 eosinophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0000095 chronic lymphocytic leukemia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28165464 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0000389 cutaneous melanoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32341527 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0000571 lung adenocarcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28604730 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0001071 lung carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28604730 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0001075 ovarian carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28346442 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0003060 non-small cell lung carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31326317 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0004193 basal cell carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33549134 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0004251 myeloproliferative disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33057200 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0004505 obsolete_telomere length IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29151059 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0004624 obsolete_prostate specific antigen measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37264206 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0005090 basophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0006312 mitochondrial DNA measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35023831 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0007985 platelet crit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0007987 granulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0007988 obsolete_myeloid white cell count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0007990 neutrophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0007991 eosinophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:0010819 clonal hematopoiesis IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37932435 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:1001516 ovarian serous carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28346442 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:MONDO:0008903 lung cancer IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39366959 13621769 CV520975 NM_198253.3(TERT):c.1574-3235G>T variant EFO:OBA:2050200 prostate specific antigen amount IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37264206 13621782 CV520856 NC_000005.10:g.1295234A>G variant EFO:0000305 breast carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29059683 13621782 CV520856 NC_000005.10:g.1295234A>G variant EFO:0001075 ovarian carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38723632 13621808 CV520888 NM_198253.3(TERT):c.1950+245C>T variant EFO:0000182 hepatocellular carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35788059 13621808 CV520888 NM_198253.3(TERT):c.1950+245C>T variant EFO:1000650 estrogen-receptor negative breast cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35803233 13621808 CV520888 NM_198253.3(TERT):c.1950+245C>T variant EFO:HP:0000131 Uterine leiomyoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35803233 13621808 CV520888 NM_198253.3(TERT):c.1950+245C>T variant EFO:MONDO:0008315 prostate cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 13622266 CV518873 NM_032638.5(GATA2):c.1143+203A>G variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13622266 CV518873 NM_032638.5(GATA2):c.1143+203A>G variant EFO:0007993 lymphocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13624661 CV530453 NM_002163.4(IRF8):c.859G>A (p.Val287Met) variant EFO:0005091 monocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13624839 CV530970 NM_001481.3(GAS8):c.1073A>G (p.Gln358Arg) variant EFO:0007822 obsolete_hair colour measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34737426 13626665 CV517613 NM_000384.3(APOB):c.895T>G (p.Phe299Val) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30275531 13704249 CV538367 NM_021870.3(FGG):c.323C>G (p.Ala108Gly) variant EFO:0004623 obsolete_fibrinogen measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26561523 13704366 CV538603 NM_052968.4(APOA5):c.-644C>T variant EFO:0000195 metabolic syndrome IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38201907 13704366 CV538603 NM_052968.4(APOA5):c.-644C>T variant EFO:0004214 Abdominal Aortic Aneurysm IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36777996 13704366 CV538603 NM_052968.4(APOA5):c.-644C>T variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13704366 CV538603 NM_052968.4(APOA5):c.-644C>T variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24023260 13704366 CV538603 NM_052968.4(APOA5):c.-644C>T variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 13704366 CV538603 NM_052968.4(APOA5):c.-644C>T variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31694877 13704366 CV538603 NM_052968.4(APOA5):c.-644C>T variant EFO:0009925 Antithrombotic agent use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13704366 CV538603 NM_052968.4(APOA5):c.-644C>T variant EFO:0009932 HMG CoA reductase inhibitor use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13704366 CV538603 NM_052968.4(APOA5):c.-644C>T variant EFO:0020943 cholesterol:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 13704366 CV538603 NM_052968.4(APOA5):c.-644C>T variant EFO:0801387 apolipoprotein A-V measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 13704366 CV538603 NM_052968.4(APOA5):c.-644C>T variant EFO:0803051 semaphorin-6C measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 13704369 CV538600 NR_103444.1(LOC100996325):n.366+1469G>A variant EFO:0003100 peripheral neuropathy IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25710658 13704369 CV538600 NR_103444.1(LOC100996325):n.366+1469G>A variant EFO:OBA:2040024 trait in response to vincristine IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25710658 13786425 CV549698 NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 13786425 CV549698 NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln) variant EFO:0008215 lysosomal protective protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 13786425 CV549698 NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln) variant EFO:0020763 tartrate-resistant acid phosphatase type 5 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 13786425 CV549698 NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln) variant EFO:0801777 lysosomal Pro-X carboxypeptidase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 13786584 CV549649 NM_005566.4(LDHA):c.439G>T (p.Ala147Ser) variant EFO:0004808 L lactate dehydrogenase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26838040 13786953 CV549666 NM_001610.4(ACP2):c.86G>A (p.Arg29Gln) variant EFO:0004465 obsolete_fasting blood glucose measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39280063 13787308 CV549571 NM_000027.4(AGA):c.127+25C>T variant EFO:0009766 asparagine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 13787308 CV549571 NM_000027.4(AGA):c.127+25C>T variant EFO:0010462 aspartate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 13787308 CV549571 NM_000027.4(AGA):c.127+25C>T variant EFO:0800151 N-acetylglucosaminylasparagine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 13788045 CV549645 NM_002778.4(PSAP):c.1432-22C>T variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 13788105 CV549789 NM_001398.3(ECH1):c.649G>A (p.Gly217Arg) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 13788105 CV549789 NM_001398.3(ECH1):c.649G>A (p.Gly217Arg) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 13789444 CV439830 NM_198253.3(TERT):c.2051A>G (p.Asp684Gly) variant EFO:0000768 idiopathic pulmonary fibrosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36777996 13794689 CV552206 NM_004252.5(NHERF1):c.657C>G (p.Ile219Met) variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13794689 CV552206 NM_004252.5(NHERF1):c.657C>G (p.Ile219Met) variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13794689 CV552206 NM_004252.5(NHERF1):c.657C>G (p.Ile219Met) variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13796563 CV552588 NM_004333.6(BRAF):c.1518-118T>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13796608 CV552548 NM_002880.4(RAF1):c.1417+170C>G variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:20686565 13796644 CV552609 NM_001101.5(ACTB):c.-6-33C>T variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 13796644 CV552609 NM_001101.5(ACTB):c.-6-33C>T variant EFO:0004875 mathematical ability IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30038396 13796870 CV553062 NM_006767.4(LZTR1):c.401-130G>C variant EFO:0007874 gut microbiome measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462485 13797547 CV552681 NM_002834.5(PTPN11):c.1379+273G>A variant EFO:0004617 cystatin C measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 13801926 CV577545 NM_052874.5(STX1B):c.538-7A>G variant EFO:0000676 psoriasis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23143594 13801926 CV577545 NM_052874.5(STX1B):c.538-7A>G variant EFO:1001494 psoriasis vulgaris IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26626624 13801931 CV577543 NM_052874.5(STX1B):c.840A>G (p.Ser280=) variant EFO:0004570 bilirubin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 13808821 CV577441 NM_021098.3(CACNA1H):c.5612G>A (p.Arg1871Gln) variant EFO:0009001 Mastocytosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33421400 13809099 CV576926 NM_000500.9(CYP21A2):c.*13G>A variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 13809329 CV576550 NM_001367561.1(DOCK7):c.5062T>C (p.Leu1688=) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 13809329 CV576550 NM_001367561.1(DOCK7):c.5062T>C (p.Leu1688=) variant EFO:0005036 obsolete_platelet measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 13809329 CV576550 NM_001367561.1(DOCK7):c.5062T>C (p.Leu1688=) variant EFO:0005653 serum metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33031748 13809329 CV576550 NM_001367561.1(DOCK7):c.5062T>C (p.Leu1688=) variant EFO:0010230 phosphatidylinositol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 13809329 CV576550 NM_001367561.1(DOCK7):c.5062T>C (p.Leu1688=) variant EFO:0022226 cholesterol in small HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 13809329 CV576550 NM_001367561.1(DOCK7):c.5062T>C (p.Leu1688=) variant EFO:0022296 phospholipids in small HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 13809329 CV576550 NM_001367561.1(DOCK7):c.5062T>C (p.Leu1688=) variant EFO:0022311 total lipids in small HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 13809329 CV576550 NM_001367561.1(DOCK7):c.5062T>C (p.Leu1688=) variant EFO:0800184 1-stearoyl-2-arachidonoyl-GPI (18:0/20:4) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 13809329 CV576550 NM_001367561.1(DOCK7):c.5062T>C (p.Leu1688=) variant EFO:0800413 1-stearoyl-2-linoleoyl-GPI (18:0/18:2) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 13811304 CV576553 NM_005012.4(ROR1):c.1044C>T (p.Thr348=) variant EFO:0020831 tyrosine-protein kinase transmembrane receptor ROR1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 13811304 CV576553 NM_005012.4(ROR1):c.1044C>T (p.Thr348=) variant EFO:OBA:2043309 level of tyrosine-protein kinase transmembrane receptor ROR1 in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 13815883 CV557045 NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter) variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 13818337 CV568036 NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser) variant EFO:0005782 age-related hearing impairment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34108613 13828266 CV578942 NM_006593.4(TBR1):c.*10G>A variant EFO:0004875 mathematical ability IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30038396 13828283 CV579940 NM_001170629.2(CHD8):c.172G>A (p.Val58Met) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 13833186 CV584414 NM_000452.3(SLC10A2):c.292G>A (p.Val98Ile) variant EFO:0021036 taurolithocholate 3-sulfate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 13833186 CV584414 NM_000452.3(SLC10A2):c.292G>A (p.Val98Ile) variant EFO:0021374 X-14626 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 13833186 CV584414 NM_000452.3(SLC10A2):c.292G>A (p.Val98Ile) variant EFO:0021376 X-14658 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 13833186 CV584414 NM_000452.3(SLC10A2):c.292G>A (p.Val98Ile) variant EFO:0022097 Glycochenodeoxycholate sulfate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 13833186 CV584414 NM_000452.3(SLC10A2):c.292G>A (p.Val98Ile) variant EFO:0022098 Glycodeoxycholate sulfate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 13833186 CV584414 NM_000452.3(SLC10A2):c.292G>A (p.Val98Ile) variant EFO:0800258 glycolithocholate sulfate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 13833186 CV584414 NM_000452.3(SLC10A2):c.292G>A (p.Val98Ile) variant EFO:0800276 glycocholenate sulfate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 13833186 CV584414 NM_000452.3(SLC10A2):c.292G>A (p.Val98Ile) variant EFO:0800277 taurocholenate sulfate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 13833186 CV584414 NM_000452.3(SLC10A2):c.292G>A (p.Val98Ile) variant EFO:0800384 glycochenodeoxycholate 3-sulfate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 13833186 CV584414 NM_000452.3(SLC10A2):c.292G>A (p.Val98Ile) variant EFO:0800385 glycodeoxycholate 3-sulfate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 13833186 CV584414 NM_000452.3(SLC10A2):c.292G>A (p.Val98Ile) variant EFO:0800386 taurodeoxycholic acid 3-sulfate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 13833186 CV584414 NM_000452.3(SLC10A2):c.292G>A (p.Val98Ile) variant EFO:0800584 taurochenodeoxycholic acid 3-sulfate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 13834292 CV585537 NM_001330677.2(TBX15):c.1697T>G (p.Met566Arg) variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 13834292 CV585537 NM_001330677.2(TBX15):c.1697T>G (p.Met566Arg) variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 13834292 CV585537 NM_001330677.2(TBX15):c.1697T>G (p.Met566Arg) variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 13837553 CV588843 NM_006486.3(FBLN1):c.2084A>G (p.His695Arg) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 13837553 CV588843 NM_006486.3(FBLN1):c.2084A>G (p.His695Arg) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 13837553 CV588843 NM_006486.3(FBLN1):c.2084A>G (p.His695Arg) variant EFO:0005689 non-high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 14394233 CV609798 NM_152866.3(MS4A1):c.216C>T (p.Ile72=) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32929287 14394304 CV610034 NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu) variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14394304 CV610034 NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu) variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14394304 CV610034 NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14394304 CV610034 NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu) variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14394304 CV610034 NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu) variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 14394304 CV610034 NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu) variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14394863 CV613406 NM_000342.3(SLC4A1):c.-195A>G variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14395406 CV611145 NM_000552.5(VWF):c.2340C>G (p.Asn780Lys) variant EFO:0004466 obsolete_fasting blood insulin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39280063 14395610 CV611368 NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys) variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 14395610 CV611368 NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys) variant EFO:0007985 platelet crit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 14395612 CV611371 NM_014967.5(FAN1):c.1520G>A (p.Arg507His) variant EFO:0004847 age at onset IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29750799 14395612 CV611371 NM_014967.5(FAN1):c.1520G>A (p.Arg507His) variant EFO:MONDO:0007739 Huntington disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29750799 14397510 CV613392 NM_001140.5(ALOX15):c.1679C>T (p.Thr560Met) variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14397510 CV613392 NM_001140.5(ALOX15):c.1679C>T (p.Thr560Met) variant EFO:0005090 basophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 14397510 CV613392 NM_001140.5(ALOX15):c.1679C>T (p.Thr560Met) variant EFO:0007991 eosinophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14397510 CV613392 NM_001140.5(ALOX15):c.1679C>T (p.Thr560Met) variant EFO:0007994 neutrophil percentage of granulocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 14397510 CV613392 NM_001140.5(ALOX15):c.1679C>T (p.Thr560Met) variant EFO:0007996 eosinophil percentage of granulocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 14397510 CV613392 NM_001140.5(ALOX15):c.1679C>T (p.Thr560Met) variant EFO:1000391 Nasal Cavity Polyp IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14398918 CV614385 NM_001733.7(C1R):c.336G>C (p.Met112Ile) variant EFO:0801525 diacylglycerol kinase beta measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 14398922 CV614384 NM_001734.5(C1S):c.943G>A (p.Asp315Asn) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 14693229 CV620684 NM_016327.3(UPB1):c.792C>A (p.Ser264Arg) variant EFO:0010641 3-ureidopropionate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 14693809 CV620272 NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) variant EFO:0008262 platelet glycoprotein 4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 14698607 CV622979 NM_203290.4(POLR1C):c.395G>A (p.Gly132Asp) variant EFO:0004307 glucose tolerance test IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29093273 14698607 CV622979 NM_203290.4(POLR1C):c.395G>A (p.Gly132Asp) variant EFO:0008465 glucagon-like peptide-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29093273 14705551 CV669067 NM_177550.5(SLC13A5):c.717-263A>C variant EFO:0010114 citrate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 14705621 CV660893 NM_003060.4(SLC22A5):c.652+270A>G variant EFO:0800031 beta-hydroxyisovaleroylcarnitine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 14705625 CV660899 NM_003060.4(SLC22A5):c.652+272G>A variant EFO:0800024 isovalerylcarnitine (C5) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 14705630 CV666497 NM_003982.4(SLC7A7):c.500-279T>C variant EFO:0001668 human papilloma virus infection IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34642315 14705630 CV666497 NM_003982.4(SLC7A7):c.500-279T>C variant EFO:1001931 oropharynx cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34642315 14705819 CV665914 NM_001173990.2(TMEM216):c.-443T>C variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 14705827 CV663800 NM_003289.3(TPM2):c.-496G>A variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14705906 CV668339 NM_002968.3(SALL1):c.3535-207G>A variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 14705906 CV668339 NM_002968.3(SALL1):c.3535-207G>A variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 14705963 CV659280 NM_005413.4(SIX3):c.807-161C>T variant EFO:0004337 intelligence IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29942086 14705988 CV670202 NM_175914.5(HNF4A):c.224+266C>T variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14706155 CV660259 NM_001080477.4(TENM3):c.7344+175C>G variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 14706634 CV667880 NM_004239.4(TRIP11):c.5160+195G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:18391950 14706671 CV670430 NM_001972.2(ELANE):c.-353G>A variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 14706859 CV663274 NM_201384.3(PLEC):c.112+203C>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14706859 CV663274 NM_201384.3(PLEC):c.112+203C>A variant EFO:0004685 hip geometry IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39574169 14706859 CV663274 NM_201384.3(PLEC):c.112+203C>A variant EFO:0005036 obsolete_platelet measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 14706862 CV662711 NM_201384.3(PLEC):c.3261-123T>C variant EFO:0007984 platelet component distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14706862 CV662711 NM_201384.3(PLEC):c.3261-123T>C variant EFO:0009187 obsolete_immature platelet fraction IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 14706893 CV663226 NM_201384.3(PLEC):c.4044+143C>T variant EFO:0004309 platelet count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39414775 14706933 CV660305 NM_000142.5(FGFR3):c.930+625G>A variant EFO:0011015 educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35361970 14706987 CV662716 NM_201384.3(PLEC):c.2305-240A>G variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37106081 14706987 CV662716 NM_201384.3(PLEC):c.2305-240A>G variant EFO:0004995 lean body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 14706987 CV662716 NM_201384.3(PLEC):c.2305-240A>G variant EFO:0005036 obsolete_platelet measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 14707049 CV657887 NM_020631.6(PLEKHG5):c.1800+107C>T variant EFO:MONDO:0005301 multiple sclerosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24076602 14707131 CV668205 NM_007347.5(AP4E1):c.542+258A>G variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35964923 14707297 CV659603 NM_001184.4(ATR):c.2805+272T>G variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 14707305 CV658205 NM_139343.2(BIN1):c.-581C>T variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14707422 CV660321 NM_001378615.1(CC2D2A):c.2004-263A>G variant EFO:0003768 nicotine dependence IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29532581 14707444 CV666560 NM_021914.7(CFL2):c.-1441A>G variant EFO:0004735 serum alanine aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33547301 14707444 CV666560 NM_021914.7(CFL2):c.-1441A>G variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33547301 14707500 CV669004 NM_002768.5(CHMP1A):c.253-283A>G variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30578418 14707568 CV658832 NM_004369.4(COL6A3):c.4286-322C>T variant EFO:0005213 central corneal thickness IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35446358 14707568 CV658832 NM_004369.4(COL6A3):c.4286-322C>T variant EFO:0010067 corneal resistance factor IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35446358 14709813 CV664509 NM_000264.3(PTCH1):c.-8727A>T variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 14710343 CV667628 NM_006888.6(CALM1):c.179-293C>T variant EFO:0004505 obsolete_telomere length IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32109421 14710345 CV662857 NM_000238.4(KCNH2):c.308-271C>T variant EFO:0000195 metabolic syndrome IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31589552 14710345 CV662857 NM_000238.4(KCNH2):c.308-271C>T variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 14710345 CV662857 NM_000238.4(KCNH2):c.308-271C>T variant EFO:0004341 body fat distribution IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30664634 14710356 CV658317 NM_001040142.2(SCN2A):c.4551+327T>C variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 14710441 CV666109 NM_004984.4(KIF5A):c.2993-267A>G variant EFO:0004838 calcium measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33887147 14710441 CV666109 NM_004984.4(KIF5A):c.2993-267A>G variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30679032 14710502 CV667868 NM_001018005.2(TPM1):c.240+4887G>C variant EFO:0007985 platelet crit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14710502 CV667868 NM_001018005.2(TPM1):c.240+4887G>C variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14710601 CV667971 NM_000814.6(GABRB3):c.683-257G>A variant EFO:0004784 self reported educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30038396 14710615 CV668156 NM_001271.4(CHD2):c.1052+323A>G variant EFO:0004467 insulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34620218 14710718 CV657832 NM_006516.4(SLC2A1):c.18+254T>C variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14710718 CV657832 NM_006516.4(SLC2A1):c.18+254T>C variant EFO:0005091 monocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14710749 CV665937 NM_153026.3(PRICKLE1):c.132+313G>A variant EFO:0004741 blood urea nitrogen measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31152163 14710749 CV665937 NM_153026.3(PRICKLE1):c.132+313G>A variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39256582 14710777 CV668239 NM_177550.5(SLC13A5):c.547+264T>C variant EFO:0010114 citrate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 14710882 CV667709 NM_002768.5(CHMP1A):c.106-317C>A variant EFO:0003924 hair color IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36672889 14710923 CV659920 NM_013334.3(GMPPB):c.-454G>A variant EFO:0011015 educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34743297 14710923 CV659920 NM_013334.3(GMPPB):c.-454G>A variant EFO:MONDO:0004975 Alzheimer disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34743297 14710981 CV661281 NM_001098511.3(KIF2A):c.1119+280T>A variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 14711029 CV670579 NM_000744.7(CHRNA4):c.77-303G>C variant EFO:0006525 cigarettes per day measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 14711276 CV657840 NM_022114.4(PRDM16):c.387+274G>T variant EFO:MONDO:0005277 migraine disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27322543 14711914 CV670224 NM_000540.3(RYR1):c.4935-53T>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 14712334 CV660658 NM_005506.4(SCARB2):c.424-210A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 14712627 CV662245 NM_001851.4(COL9A1):c.-364C>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 14713612 CV664011 NM_000093.5(COL5A1):c.3258+258T>C variant EFO:0004288 colonic neoplasm IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36077729 14713737 CV665564 NM_001931.4(DLAT):c.-943G>T variant EFO:0004343 waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30239722 14713745 CV665362 NM_002860.4(ALDH18A1):c.89-285G>T variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32929287 14713755 CV665358 NM_002860.4(ALDH18A1):c.89-253T>G variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32929287 14713837 CV666284 NM_000209.3(PDX1):c.-279G>A variant EFO:0002618 pancreatic carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25086665 14714306 CV665310 NM_032578.4(MYPN):c.3660-276G>A variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14714746 CV667378 NM_182476.3(COQ6):c.298+168C>A variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14714979 CV669288 NM_177550.5(SLC13A5):c.547+179C>T variant EFO:0010114 citrate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 14715015 CV660900 NM_003060.4(SLC22A5):c.1052+237T>C variant EFO:0021145 gamma-glutamylvaline measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 14715022 CV657948 NM_006516.4(SLC2A1):c.19-187C>A variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14715478 CV668742 NM_006086.4(TUBB3):c.58-185G>A variant EFO:0003924 hair color IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30531825 14715487 CV670087 NM_006087.4(TUBB4A):c.57+169G>A variant EFO:0004464 obsolete_brain measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33723403 14715661 CV669358 NM_000546.6(TP53):c.376-117G>A variant EFO:0000326 central nervous system cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26424050 14715661 CV669358 NM_000546.6(TP53):c.376-117G>A variant EFO:0000519 glioblastoma multiforme IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26424050 14715661 CV669358 NM_000546.6(TP53):c.376-117G>A variant EFO:0000621 neuroblastoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28545128 14715661 CV669358 NM_000546.6(TP53):c.376-117G>A variant EFO:0004193 basal cell carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36496446 14715976 CV657224 NM_018136.5(ASPM):c.3390+142T>A variant EFO:0600056 complement factor H-related protein 3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34260948 14716068 CV656813 NM_005465.7(AKT3):c.285-149G>A variant EFO:0004627 IGF-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14716207 CV667348 NM_015915.5(ATL1):c.574-132G>A variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 14716207 CV667348 NM_015915.5(ATL1):c.574-132G>A variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 14716314 CV662960 NM_003640.5(ELP1):c.3856-82G>C variant EFO:0004627 IGF-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14716422 CV667440 NM_004863.4(SPTLC2):c.851-30G>C variant EFO:0010222 ceramide measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 14716431 CV661014 NM_003060.4(SLC22A5):c.497+236C>T variant EFO:0021038 acetylcarnitine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24816252 14716795 CV663309 NM_000368.5(TSC1):c.2625+68G>A variant EFO:0000676 psoriasis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:19169254 14717059 CV662206 NM_012470.4(TNPO3):c.1011+149T>A variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14717131 CV662623 NM_012470.4(TNPO3):c.2712-218A>C variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14717291 CV663628 NM_001032221.6(STXBP1):c.1702+1997G>A variant EFO:0006525 cigarettes per day measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 14717325 CV669149 NM_001128159.3(VPS53):c.1313+214G>C variant EFO:0007929 triglyceride:HDL cholesterol ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38200128 14717350 CV666926 NM_018979.4(WNK1):c.1311+154G>T variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26426971 14717354 CV666979 NM_018979.4(WNK1):c.3372+67G>A variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 14717354 CV666979 NM_018979.4(WNK1):c.3372+67G>A variant EFO:0004765 obsolete_visceral adipose tissue measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31501611 14717354 CV666979 NM_018979.4(WNK1):c.3372+67G>A variant EFO:0005409 obsolete_fat body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 14717400 CV661299 NM_002397.5(MEF2C):c.590-95G>T variant EFO:0004337 intelligence IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29942086 14717400 CV661299 NM_002397.5(MEF2C):c.590-95G>T variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30239722 14717631 CV669893 NM_001110556.2(FLNA):c.7024-39T>C variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14717833 CV662786 NM_000238.4(KCNH2):c.2145+40G>A variant EFO:0004682 QT interval IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24952745 14717873 CV659571 NM_024334.3(TMEM43):c.705+55G>A variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 14718208 CV660120 NM_001457.4(FLNB):c.5426-133C>T variant EFO:0000717 systemic scleroderma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38296975 14718247 CV664479 NM_032578.4(MYPN):c.3285+115G>A variant EFO:0004312 vital capacity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28166213 14718402 CV668464 NM_173201.3(ATP2A1):c.-507C>A variant EFO:0004318 smoking behavior IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28443625 14718402 CV668464 NM_173201.3(ATP2A1):c.-507C>A variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 14718402 CV668464 NM_173201.3(ATP2A1):c.-507C>A variant EFO:0005093 obsolete_hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25673412 14718402 CV668464 NM_173201.3(ATP2A1):c.-507C>A variant EFO:MONDO:0004985 bipolar disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31754094 14718492 CV664764 NM_014317.5(PDSS1):c.610-316G>A variant EFO:MONDO:0001703 color vision disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37359372 14718501 CV665436 NM_014000.3(VCL):c.2131+64C>T variant EFO:0010071 cardiac troponin I measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33961016 14718537 CV662568 NM_021167.5(GATAD1):c.249+95C>G variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37106081 14718658 CV659128 NM_133259.4(LRPPRC):c.2897-262G>A variant EFO:0004698 insomnia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35835914 14718746 CV658040 NM_020631.4(PLEKHG5):c.-28788G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 14718755 CV669681 NM_001083961.2(WDR62):c.2210+280C>T variant EFO:0000638 overall survival IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35322040 14718755 CV669681 NM_001083961.2(WDR62):c.2210+280C>T variant EFO:GO:0097327 response to antineoplastic agent IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35322040 14718981 CV664577 NM_001134363.3(RBM20):c.1880+23T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 14719154 CV667091 NM_000126.4(ETFA):c.452-268C>T variant EFO:0009959 diverticular disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30177863 14719311 CV663273 NM_201378.4(PLEC):c.71-5494G>A variant EFO:0004462 PR interval IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32439900 14719311 CV663273 NM_201378.4(PLEC):c.71-5494G>A variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14719311 CV663273 NM_201378.4(PLEC):c.71-5494G>A variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35710981 14719311 CV663273 NM_201378.4(PLEC):c.71-5494G>A variant EFO:MONDO:0004975 Alzheimer disease IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39537608 14719324 CV657420 NM_020247.5(COQ8A):c.854-81A>G variant EFO:0007993 lymphocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 14719783 CV669909 NM_024876.4(COQ8B):c.799+269G>A variant EFO:0000341 chronic obstructive pulmonary disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32514122 14719865 CV668649 NM_005262.2(GFER):c.-279C>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37106081 14720244 CV665736 NM_000256.3(MYBPC3):c.293-211C>G variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37106081 14720269 CV668111 NM_001128159.3(VPS53):c.1867-292C>T variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 14720389 CV657372 NM_001103.4(ACTN2):c.126+157A>G variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 14720507 CV665892 NM_000256.3(MYBPC3):c.2149-182A>G variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14720507 CV665892 NM_000256.3(MYBPC3):c.2149-182A>G variant EFO:0004468 glucose measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14720507 CV665892 NM_000256.3(MYBPC3):c.2149-182A>G variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14720507 CV665892 NM_000256.3(MYBPC3):c.2149-182A>G variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14720507 CV665892 NM_000256.3(MYBPC3):c.2149-182A>G variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 14720507 CV665892 NM_000256.3(MYBPC3):c.2149-182A>G variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14720507 CV665892 NM_000256.3(MYBPC3):c.2149-182A>G variant EFO:0004627 IGF-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14720507 CV665892 NM_000256.3(MYBPC3):c.2149-182A>G variant EFO:MONDO:0005301 multiple sclerosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31604244 14720525 CV669266 NM_003673.3(TCAP):c.-178G>T variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30926973 14720531 CV658492 NM_001267550.2(TTN):c.2077-86C>T variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39537608 14720532 CV657004 NM_001232.4(CASQ2):c.234+111C>G variant EFO:0000275 atrial fibrillation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14720718 CV662311 NM_004415.4(DSP):c.726+219T>G variant EFO:0000768 idiopathic pulmonary fibrosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29066090 14720718 CV662311 NM_004415.4(DSP):c.726+219T>G variant EFO:0004244 interstitial lung disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23583980 14721204 CV660967 NM_001999.4(FBN2):c.4223-178A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 14721311 CV667970 NM_005902.4(SMAD3):c.400+59G>C variant EFO:0002892 thyroid carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28195142 14721311 CV667970 NM_005902.4(SMAD3):c.400+59G>C variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 14722434 CV665267 NM_032578.4(MYPN):c.2703+178G>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 14722434 CV665267 NM_032578.4(MYPN):c.2703+178G>T variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 14722776 CV660193 NM_001059.3(TACR3):c.-271C>G variant EFO:0004703 age at menarche IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25231870 14723146 CV668299 NM_005902.4(SMAD3):c.872-113G>T variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 14723146 CV668299 NM_005902.4(SMAD3):c.872-113G>T variant EFO:0006527 smoking status measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30643251 14723149 CV668313 NM_005902.4(SMAD3):c.872-95T>C variant EFO:0009941 Inhalant adrenergic use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31015401 14723477 CV670548 NM_006440.5(TXNRD2):c.774+255C>A variant EFO:MONDO:0001703 color vision disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37359372 14723557 CV667326 NM_025152.3(NUBPL):c.815-180A>G variant EFO:0004992 Otitis media IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36167494 14723599 CV656420 NM_001366661.1(CLUH):c.2012C>T (p.Ala671Val) variant EFO:0004682 QT interval IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36050321 14723599 CV656420 NM_001366661.1(CLUH):c.2012C>T (p.Ala671Val) variant EFO:0007885 JT interval IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36050321 14723628 CV671081 NM_005120.3(MED12):c.6491-58G>A variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14723628 CV671081 NM_005120.3(MED12):c.6491-58G>A variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14723737 CV662141 NM_002489.4(NDUFA4):c.189+281A>C variant EFO:0022048 eosinophil-derived neurotoxin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35671886 14724021 CV649146 NM_014339.7(IL17RA):c.1087G>A (p.Asp363Asn) variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14724021 CV649146 NM_014339.7(IL17RA):c.1087G>A (p.Asp363Asn) variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14724021 CV649146 NM_014339.7(IL17RA):c.1087G>A (p.Asp363Asn) variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14724021 CV649146 NM_014339.7(IL17RA):c.1087G>A (p.Asp363Asn) variant EFO:0005091 monocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14724021 CV649146 NM_014339.7(IL17RA):c.1087G>A (p.Asp363Asn) variant EFO:0007989 monocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14724064 CV666082 NM_000545.8(HNF1A):c.327-42G>A variant EFO:0008317 obsolete_vldl cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 14724064 CV666082 NM_000545.8(HNF1A):c.327-42G>A variant EFO:0008591 free cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 14724064 CV666082 NM_000545.8(HNF1A):c.327-42G>A variant EFO:0008595 intermediate density lipoprotein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 14724064 CV666082 NM_000545.8(HNF1A):c.327-42G>A variant EFO:0010351 cholesteryl ester measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 14724064 CV666082 NM_000545.8(HNF1A):c.327-42G>A variant EFO:0010815 remnant cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 14724064 CV666082 NM_000545.8(HNF1A):c.327-42G>A variant EFO:0020946 phospholipids:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 14724064 CV666082 NM_000545.8(HNF1A):c.327-42G>A variant EFO:0021899 cholesterol in IDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 14724064 CV666082 NM_000545.8(HNF1A):c.327-42G>A variant EFO:0022161 total lipids in IDL IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 14724064 CV666082 NM_000545.8(HNF1A):c.327-42G>A variant EFO:0022164 phospholipids in IDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 14724064 CV666082 NM_000545.8(HNF1A):c.327-42G>A variant EFO:0022181 free cholesterol in IDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 14724064 CV666082 NM_000545.8(HNF1A):c.327-42G>A variant EFO:0022309 total lipids in lipoprotein particles measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 14724064 CV666082 NM_000545.8(HNF1A):c.327-42G>A variant EFO:0800400 palmitoyl dihydrosphingomyelin (d18:0/16:0) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 14724064 CV666082 NM_000545.8(HNF1A):c.327-42G>A variant EFO:OBA:2050382 level of 2-hydroxy-3-methylbutyrate in blood IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 14724065 CV666085 NM_000545.8(HNF1A):c.527-23C>T variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 14724065 CV666085 NM_000545.8(HNF1A):c.527-23C>T variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 14724065 CV666085 NM_000545.8(HNF1A):c.527-23C>T variant EFO:0801714 interleukin-1 receptor-like 2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 14724079 CV666941 NM_025114.4(CEP290):c.4705-257A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 14724149 CV669730 NM_001365902.3(NFIX):c.28-1334A>T variant EFO:0007997 granulocyte percentage of myeloid white cells IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 14724586 CV657752 NM_000191.3(HMGCL):c.349-183G>A variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 14725000 CV668535 NM_000512.5(GALNS):c.320-342G>A variant EFO:0007805 HDL cholesterol change measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38336841 14725000 CV668535 NM_000512.5(GALNS):c.320-342G>A variant EFO:GO:0097332 response to antipsychotic drug IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38336841 14725081 CV658630 NM_001044385.3(TMEM237):c.74+71C>T variant EFO:0004284 upper aerodigestive tract neoplasm IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33667223 14725157 CV665691 NM_001368894.2(PAX6):c.1075-174G>A variant EFO:0007006 depressive symptom measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30643256 14725157 CV665691 NM_001368894.2(PAX6):c.1075-174G>A variant EFO:0007660 neuroticism measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30643256 14725182 CV658898 NM_006736.6(DNAJB2):c.176-38C>T variant EFO:0004784 self reported educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25201988 14725777 CV666521 NM_000257.4(MYH7):c.3972+203G>A variant EFO:0000275 atrial fibrillation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29892015 14725865 CV655043 NM_020131.5(UBQLN4):c.1485A>G (p.Ile495Met) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36581621 14726384 CV670754 NM_001110556.2(FLNA):c.5686+85A>G variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36575460 14726538 CV655809 NM_000722.4(CACNA2D1):c.-183T>C variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14726567 CV658352 NM_001267550.2(TTN):c.44281+170G>A variant EFO:0003761 obsolete_unipolar depression IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34782712 14726567 CV658352 NM_001267550.2(TTN):c.44281+170G>A variant EFO:0008354 cognitive function measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34782712 14726567 CV658352 NM_001267550.2(TTN):c.44281+170G>A variant EFO:0009332 executive function measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34782712 14726567 CV658352 NM_001267550.2(TTN):c.44281+170G>A variant EFO:MONDO:0002009 major depressive disorder IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34782712 14726662 CV671075 NM_000032.5(ALAS2):c.416-34C>T variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14726662 CV671075 NM_000032.5(ALAS2):c.416-34C>T variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14726713 CV667731 NM_001013703.4(EIF2AK4):c.2632-168T>A variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 14726713 CV667731 NM_001013703.4(EIF2AK4):c.2632-168T>A variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 14726716 CV667734 NM_001013703.4(EIF2AK4):c.2686+93C>T variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14726763 CV668792 NM_018127.7(ELAC2):c.2254-191G>A variant EFO:MONDO:0005090 schizophrenia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26198764 14726785 CV663436 NM_001018116.2(CAVIN4):c.-117T>C variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35710981 14726800 CV657839 NM_022114.4(PRDM16):c.37+25C>G variant EFO:0000612 myocardial infarction IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14726808 CV657755 NM_022114.4(PRDM16):c.574-141T>G variant EFO:0000729 ulcerative colitis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35232999 14726812 CV664809 NM_006258.4(PRKG1):c.762+113C>T variant EFO:0004875 mathematical ability IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30038396 14726948 CV662101 NM_080680.3(COL11A2):c.2214+88G>C variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:18193043 14726977 CV661724 NM_080680.3(COL11A2):c.3852+94C>T variant EFO:0004784 self reported educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30038396 14727116 CV666658 NM_001844.5(COL2A1):c.2409+84G>C variant EFO:0007990 neutrophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14727130 CV659516 NM_005911.6(MAT2A):c.952-49A>G variant EFO:0005090 basophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 14727165 CV659993 NM_006371.5(CRTAP):c.922+100A>G variant EFO:MONDO:0005301 multiple sclerosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31604244 14727352 CV668757 NM_002615.7(SERPINF1):c.787-33A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 14727357 CV659233 NM_005413.4(SIX3):c.806+104G>A variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37282553 14727357 CV659233 NM_005413.4(SIX3):c.806+104G>A variant EFO:0009594 irritability measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29500382 14727357 CV659233 NM_005413.4(SIX3):c.806+104G>A variant EFO:0010155 taste liking measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35585065 14727357 CV659233 NM_005413.4(SIX3):c.806+104G>A variant EFO:0010736 obsolete_cortical surface area measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34560273 14727365 CV667943 NM_022369.4(STRA6):c.1166+82C>T variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31152163 14727397 CV656937 NM_001854.4(COL11A1):c.1413+47A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 14727402 CV662218 NM_080680.3(COL11A2):c.1917+70G>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 14727554 CV664130 NM_019892.6(INPP5E):c.1034+120A>G variant EFO:0007989 monocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 14727565 CV667996 NM_015443.4(KANSL1):c.2724+99G>C variant EFO:0010119 omega-3 polyunsaturated fatty acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 14727565 CV667996 NM_015443.4(KANSL1):c.2724+99G>C variant EFO:0010732 omega-6:omega-3 polyunsaturated fatty acid ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 14727614 CV667164 NM_002693.3(POLG):c.1712+110T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 14727687 CV670266 NM_001853.4(COL9A3):c.901-27C>T variant EFO:0009362 nicotine withdrawal measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29532581 14727995 CV669663 NM_003331.5(TYK2):c.317+26G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 14728125 CV662613 NM_001753.5(CAV1):c.196-172A>G variant EFO:0000275 atrial fibrillation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28416818 14728125 CV662613 NM_001753.5(CAV1):c.196-172A>G variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14728135 CV658659 NM_000393.5(COL5A2):c.4354-137T>C variant EFO:0010736 obsolete_cortical surface area measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34560273 14728553 CV631831 NM_153460.4(IL17RC):c.962C>G (p.Ser321Trp) variant EFO:0000702 small cell lung carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35915169 14728855 CV660919 NM_012208.4(HARS2):c.633+44C>T variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33547301 14730018 CV666538 NM_000017.4(ACADS):c.473-116T>C variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32778093 14730018 CV666538 NM_000017.4(ACADS):c.473-116T>C variant EFO:0005653 serum metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29545352 14730018 CV666538 NM_000017.4(ACADS):c.473-116T>C variant EFO:0010469 carnitine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33414548 14730018 CV666538 NM_000017.4(ACADS):c.473-116T>C variant EFO:0800208 butyrylglycine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 14730164 CV656600 NM_004793.4(LONP1):c.722G>A (p.Arg241Gln) variant EFO:0006312 mitochondrial DNA measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35023831 14730179 CV666032 NM_052845.4(MMAB):c.348+147G>A variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39414775 14730179 CV666032 NM_052845.4(MMAB):c.348+147G>A variant EFO:0005230 anxiety IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29942085 14730179 CV666032 NM_052845.4(MMAB):c.348+147G>A variant EFO:0009599 feeling emotionally hurt measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29500382 14730179 CV666032 NM_052845.4(MMAB):c.348+147G>A variant EFO:MONDO:0005129 cataract IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14730257 CV658055 NM_000016.6(ACADM):c.30+67C>G variant EFO:0005116 urinary metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31959995 14730257 CV658055 NM_000016.6(ACADM):c.30+67C>G variant EFO:0800089 indolepropionylglycine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 14730257 CV658055 NM_000016.6(ACADM):c.30+67C>G variant EFO:0800796 X-18921 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 14730301 CV657192 NM_018122.5(DARS2):c.1675-112T>G variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 14730301 CV657192 NM_018122.5(DARS2):c.1675-112T>G variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 14730382 CV663529 NM_152416.4(NDUFAF6):c.198-147G>A variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35762941 14730455 CV657099 NM_025207.5(FLAD1):c.1555-76G>T variant EFO:0004627 IGF-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14730855 CV657083 NM_025150.5(TARS2):c.1719-47C>T variant EFO:0007985 platelet crit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14730880 CV665828 NM_001040436.3(YARS2):c.1104-107A>C variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 14731043 CV666341 NM_006231.4(POLE):c.5679-127G>A variant EFO:0011015 educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35361970 14731090 CV668604 NM_003072.5(SMARCA4):c.4769-44A>G variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14731090 CV668604 NM_003072.5(SMARCA4):c.4769-44A>G variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14731090 CV668604 NM_003072.5(SMARCA4):c.4769-44A>G variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14731130 CV664908 NM_000051.4(ATM):c.8011-131T>C variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14731475 CV656033 NM_030770.4(TMPRSS5):c.373G>A (p.Val125Met) variant EFO:0008433 pursuit maintenance gain measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29064472 14731489 CV664780 NM_001377.3(DYNC2H1):c.195+96A>G variant EFO:MONDO:0018076 tuberculosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24057671 14731858 CV662951 NM_000162.5(GCK):c.209-236G>T variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14731864 CV666539 NM_000545.8(HNF1A):c.326+91A>G variant EFO:0001645 coronary artery disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28714975 14731864 CV666539 NM_000545.8(HNF1A):c.326+91A>G variant EFO:0004329 alcohol drinking IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30698716 14731864 CV666539 NM_000545.8(HNF1A):c.326+91A>G variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14731864 CV666539 NM_000545.8(HNF1A):c.326+91A>G variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14731864 CV666539 NM_000545.8(HNF1A):c.326+91A>G variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14731864 CV666539 NM_000545.8(HNF1A):c.326+91A>G variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14731864 CV666539 NM_000545.8(HNF1A):c.326+91A>G variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14731864 CV666539 NM_000545.8(HNF1A):c.326+91A>G variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30698716 14731864 CV666539 NM_000545.8(HNF1A):c.326+91A>G variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30698716 14731864 CV666539 NM_000545.8(HNF1A):c.326+91A>G variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14731864 CV666539 NM_000545.8(HNF1A):c.326+91A>G variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14731864 CV666539 NM_000545.8(HNF1A):c.326+91A>G variant EFO:0004617 cystatin C measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14731864 CV666539 NM_000545.8(HNF1A):c.326+91A>G variant EFO:0004627 IGF-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14731864 CV666539 NM_000545.8(HNF1A):c.326+91A>G variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14731864 CV666539 NM_000545.8(HNF1A):c.326+91A>G variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30698716 14731864 CV666539 NM_000545.8(HNF1A):c.326+91A>G variant EFO:0009795 obsolete_serum urea measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14731864 CV666539 NM_000545.8(HNF1A):c.326+91A>G variant EFO:0010118 sphingomyelin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 14731864 CV666539 NM_000545.8(HNF1A):c.326+91A>G variant EFO:0800135 guanidinoacetate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 14731864 CV666539 NM_000545.8(HNF1A):c.326+91A>G variant EFO:0800427 behenoyl dihydrosphingomyelin (d18:0/22:0) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 14731875 CV665420 NM_000545.8(HNF1A):c.327-158C>T variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38626723 14731875 CV665420 NM_000545.8(HNF1A):c.327-158C>T variant EFO:0004735 serum alanine aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35654975 14731875 CV665420 NM_000545.8(HNF1A):c.327-158C>T variant EFO:0010222 ceramide measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 14731882 CV664475 NM_000264.5(PTCH1):c.202-217C>T variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33097823 14731897 CV666269 NM_000545.8(HNF1A):c.527-98G>A variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14731897 CV666269 NM_000545.8(HNF1A):c.527-98G>A variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14731897 CV666269 NM_000545.8(HNF1A):c.527-98G>A variant EFO:0004741 blood urea nitrogen measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14731905 CV666282 NM_000545.8(HNF1A):c.1501+119G>T variant EFO:0001645 coronary artery disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:19198612 14731905 CV666282 NM_000545.8(HNF1A):c.1501+119G>T variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:22939635 14731905 CV666282 NM_000545.8(HNF1A):c.1501+119G>T variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35964923 14731908 CV667882 NM_000458.4(HNF1B):c.1535-177T>C variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14731929 CV670497 NM_175914.5(HNF4A):c.1217-67C>G variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32042192 14732319 CV664709 NM_000264.5(PTCH1):c.395-172T>C variant EFO:0007660 neuroticism measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31972866 14732436 CV670813 NM_003073.5(SMARCB1):c.795+184A>T variant EFO:0004311 obsolete_heart function measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33495596 14732436 CV670813 NM_003073.5(SMARCB1):c.795+184A>T variant EFO:0008205 left ventricular structural measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33495596 14732436 CV670813 NM_003073.5(SMARCB1):c.795+184A>T variant EFO:0008206 left ventricular systolic function measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33495596 14732436 CV670813 NM_003073.5(SMARCB1):c.795+184A>T variant EFO:0010556 Left ventricular mass to end-diastolic volume ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33495596 14732461 CV669607 NM_003073.5(SMARCB1):c.1119-41G>A variant EFO:0020097 QRS-T angle IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36918541 14732536 CV668859 NM_139276.3(STAT3):c.128+142G>T variant EFO:0021907 signal transducer and activator of transcription 3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 14732558 CV667941 NM_000693.4(ALDH1A3):c.780+56C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 14732614 CV655432 NM_001195129.2(PRSS56):c.88G>A (p.Ala30Thr) variant EFO:0004832 obsolete_optic disc size measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31809533 14732614 CV655432 NM_001195129.2(PRSS56):c.88G>A (p.Ala30Thr) variant EFO:0004847 age at onset IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29808027 14732614 CV655432 NM_001195129.2(PRSS56):c.88G>A (p.Ala30Thr) variant EFO:0010554 retinal vasculature measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34743558 14732614 CV655432 NM_001195129.2(PRSS56):c.88G>A (p.Ala30Thr) variant EFO:HP:0000545 Myopia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29808027 14732614 CV655432 NM_001195129.2(PRSS56):c.88G>A (p.Ala30Thr) variant EFO:MONDO:0004892 refractive error IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32352494 14732782 CV666112 NM_001065.4(TNFRSF1A):c.551+234A>G variant EFO:0005257 response to anthracycline-based chemotherapy IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23648065 14732782 CV666112 NM_001065.4(TNFRSF1A):c.551+234A>G variant EFO:GO:0097327 response to antineoplastic agent IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23648065 14732782 CV666112 NM_001065.4(TNFRSF1A):c.551+234A>G variant EFO:GO:1902522 response to 4'-epidoxorubicin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23648065 14733182 CV657833 NM_017837.4(PIGV):c.1200+205G>A variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 14733182 CV657833 NM_017837.4(PIGV):c.1200+205G>A variant EFO:0005090 basophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 14733982 CV669321 NM_001128159.3(VPS53):c.88-154C>T variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 14734125 CV666689 NM_001844.5(COL2A1):c.293-219T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 14734263 CV666742 NM_001844.5(COL2A1):c.2626-166T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14734274 CV662566 NM_005751.5(AKAP9):c.11097+221A>T variant EFO:0005035 hippocampal volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29274321 14734312 CV670459 NM_033118.4(MYLK2):c.879-240C>T variant EFO:0004337 intelligence IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30378284 14734312 CV670459 NM_033118.4(MYLK2):c.879-240C>T variant EFO:0009636 cesarean section IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30378284 14734442 CV668117 NM_000138.5(FBN1):c.8227-247T>C variant EFO:0004784 self reported educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27020472 14734442 CV668117 NM_000138.5(FBN1):c.8227-247T>C variant EFO:MONDO:0004892 refractive error IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27020472 14734613 CV663066 NM_000089.4(COL1A2):c.1971+123C>A variant EFO:0004645 response to vaccine IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:22610502 14734613 CV663066 NM_000089.4(COL1A2):c.1971+123C>A variant EFO:0004873 cytokine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:22610502 14734657 CV668302 NM_004320.6(ATP2A1):c.325-201T>C variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 14734663 CV668484 NM_004320.6(ATP2A1):c.1288-59G>C variant EFO:0004343 waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30239722 14734664 CV668489 NM_004320.6(ATP2A1):c.2524+80T>C variant EFO:0001073 obesity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36187959 14734664 CV668489 NM_004320.6(ATP2A1):c.2524+80T>C variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 14734664 CV668489 NM_004320.6(ATP2A1):c.2524+80T>C variant EFO:0005409 obsolete_fat body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 14734664 CV668489 NM_004320.6(ATP2A1):c.2524+80T>C variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32929287 14734664 CV668489 NM_004320.6(ATP2A1):c.2524+80T>C variant EFO:MONDO:0100096 COVID-19 IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36187959 14734708 CV669684 NM_000026.4(ADSL):c.1101+233A>G variant EFO:0011013 vaginal microbiome measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34282934 14734856 CV668704 NM_001127222.2(CACNA1A):c.293+53G>A variant EFO:0007006 depressive symptom measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30643256 14734856 CV668704 NM_001127222.2(CACNA1A):c.293+53G>A variant EFO:0007869 wellbeing measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30643256 14735135 CV660323 NM_001378615.1(CC2D2A):c.2182-249T>C variant EFO:0004346 neuroimaging measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33875891 14735142 CV657287 NM_000069.3(CACNA1S):c.1151-38C>A variant EFO:0007874 gut microbiome measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32572223 14735711 CV668424 NM_020778.5(ALPK3):c.3965+174A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 14735747 CV664413 NM_017617.5(NOTCH1):c.6180+189C>T variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28957414 14735747 CV664413 NM_017617.5(NOTCH1):c.6180+189C>T variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28957414 14735769 CV664139 NM_017617.5(NOTCH1):c.5473-43T>C variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14735843 CV657927 NM_022114.4(PRDM16):c.2604-240G>A variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35762941 14735843 CV657927 NM_022114.4(PRDM16):c.2604-240G>A variant EFO:0006340 mean arterial pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14736591 CV667191 NM_001271.4(CHD2):c.2728-53G>A variant EFO:0004784 self reported educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30038396 14736666 CV669454 NM_017777.4(MKS1):c.645-96A>G variant EFO:0004314 forced expiratory volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 14736666 CV669454 NM_017777.4(MKS1):c.645-96A>G variant EFO:0004713 FEV/FVC ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 14736666 CV669454 NM_017777.4(MKS1):c.645-96A>G variant EFO:GO:0097366 response to bronchodilator IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 14736898 CV664671 NM_201596.3(CACNB2):c.1302+238T>G variant EFO:MONDO:0001703 color vision disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37359372 14737273 CV670501 NM_001849.4(COL6A2):c.1333-229C>T variant EFO:0802757 MRNA-decapping enzyme 1A measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 14737279 CV670494 NM_001849.4(COL6A2):c.2462-2255C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 14737290 CV670715 NM_001849.4(COL6A2):c.1572+148C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 14737290 CV670715 NM_001849.4(COL6A2):c.1572+148C>T variant EFO:0010067 corneal resistance factor IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35446358 14737470 CV663620 NM_004408.4(DNM1):c.385+135T>A variant EFO:0007984 platelet component distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14737480 CV663625 NM_004408.4(DNM1):c.1335+1948C>T variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30239722 14737495 CV663887 NM_004408.4(DNM1):c.2535-1654G>A variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14737895 CV656978 NM_000302.4(PLOD1):c.1098-89G>A variant EFO:0004329 alcohol drinking IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29912962 14737895 CV656978 NM_000302.4(PLOD1):c.1098-89G>A variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29912962 14738759 CV661058 NM_001034850.3(RETREG1):c.459-25602T>C variant EFO:0009116 vitamin supplement exposure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33937227 14738759 CV661058 NM_001034850.3(RETREG1):c.459-25602T>C variant EFO:HP:0000202 Orofacial cleft IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33937227 14738762 CV655967 NM_020944.3(GBA2):c.-313C>T variant EFO:0010222 ceramide measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 14738877 CV670584 NM_000744.7(CHRNA4):c.76+157T>G variant EFO:0006525 cigarettes per day measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 14738924 CV668458 NM_001042432.2(CLN3):c.1057-144C>T variant EFO:0004337 intelligence IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29326435 14738937 CV665887 NM_001843.4(CNTN1):c.401-94C>T variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 14739141 CV670345 NM_001958.5(EEF1A2):c.324+88A>G variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36581621 14739350 CV668203 NM_001271.4(CHD2):c.5154-75C>T variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14739350 CV668203 NM_001271.4(CHD2):c.5154-75C>T variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14739354 CV668384 NM_000126.4(ETFA):c.186+155G>A variant EFO:0800029 isobutyrylglycine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 14739356 CV667705 NM_002768.5(CHMP1A):c.252+111C>T variant EFO:0009928 Diuretic use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14739356 CV667705 NM_002768.5(CHMP1A):c.252+111C>T variant EFO:0009931 Agents acting on the renin-angiotensin system use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14739375 CV669003 NM_002768.5(CHMP1A):c.382-52G>A variant EFO:0006525 cigarettes per day measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 14739375 CV669003 NM_002768.5(CHMP1A):c.382-52G>A variant EFO:0800115 picolinate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 14739616 CV667702 NM_000070.3(CAPN3):c.1915-127C>T variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 14739650 CV667694 NM_002768.5(CHMP1A):c.253-199A>G variant EFO:0004279 suntan IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29739929 14739808 CV668612 NM_001127222.2(CACNA1A):c.6340-192G>A variant EFO:0009855 frontal fibrosing alopecia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30850646 14740232 CV663992 NM_014694.4(ADAMTSL2):c.-150-79A>C variant EFO:0008060 cadherin-5 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38565889 14740235 CV663997 NM_014694.4(ADAMTSL2):c.309+208T>C variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14740340 CV665373 NM_022124.6(CDH23):c.3369+312C>T variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 14740382 CV663780 NM_014694.4(ADAMTSL2):c.-150-260G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14740471 CV665440 NM_152269.5(MTRFR):c.-28-261G>T variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 14740581 CV666096 NM_000545.8(HNF1A):c.1309+288G>A variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 14740651 CV666215 NM_052845.4(MMAB):c.134+286T>C variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 14740651 CV666215 NM_052845.4(MMAB):c.134+286T>C variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32778093 14740669 CV665348 NM_052845.4(MMAB):c.645-156T>C variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 14740769 CV667867 NM_000138.5(FBN1):c.1714+306G>A variant EFO:0005213 central corneal thickness IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29760442 14740794 CV665719 NM_000256.3(MYBPC3):c.2737+258C>T variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30578418 14740794 CV665719 NM_000256.3(MYBPC3):c.2737+258C>T variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14740907 CV667790 NM_001482.3(GATM):c.69+248C>T variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35995766 14740966 CV659802 NM_000335.5(SCN5A):c.3229-254G>C variant EFO:0004351 obsolete_resting heart rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27798624 14740966 CV659802 NM_000335.5(SCN5A):c.3229-254G>C variant EFO:0005094 P wave duration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28794112 14740976 CV659902 NM_000335.5(SCN5A):c.4243-262C>T variant EFO:0004682 QT interval IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24952745 14741156 CV658505 NM_001267550.2(TTN):c.44549-268T>C variant EFO:0000275 atrial fibrillation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29290336 14741491 CV667844 NM_000138.5(FBN1):c.5546-311C>T variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35762941 14741991 CV656841 NM_001854.4(COL11A1):c.5041-272G>C variant EFO:0004464 obsolete_brain measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34910505 14741991 CV656841 NM_001854.4(COL11A1):c.5041-272G>C variant EFO:0010736 obsolete_cortical surface area measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34560273 14742148 CV663534 NM_152416.4(NDUFAF6):c.420+304A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 14742172 CV669309 NM_001347721.2(DYRK1A):c.301-212G>A variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 14742214 CV662963 NM_000168.6(GLI3):c.2431+123G>A variant EFO:0004464 obsolete_brain measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34910505 14742214 CV662963 NM_000168.6(GLI3):c.2431+123G>A variant EFO:0004784 self reported educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30038396 14742214 CV662963 NM_000168.6(GLI3):c.2431+123G>A variant EFO:0005035 hippocampal volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37337106 14742214 CV662963 NM_000168.6(GLI3):c.2431+123G>A variant EFO:0009396 hippocampal CA4 volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37337106 14742214 CV662963 NM_000168.6(GLI3):c.2431+123G>A variant EFO:0010083 obsolete_dentate gyrus volume measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37337106 14742719 CV669465 NM_001849.4(COL6A2):c.1735-72G>A variant EFO:0005213 central corneal thickness IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35446358 14742777 CV670426 NM_001848.3(COL6A1):c.1741-51G>A variant EFO:0009959 diverticular disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30177863 14742951 CV660303 NM_173660.5(DOK7):c.773-67G>A variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 14742957 CV669371 NM_004287.5(GOSR2):c.203+169G>C variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 14743089 CV663533 NM_003640.5(ELP1):c.552+133A>G variant EFO:0004995 lean body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 14743130 CV665811 NM_002180.3(IGHMBP2):c.548-190G>T variant EFO:0004314 forced expiratory volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36914875 14743153 CV663503 NM_003640.5(ELP1):c.2131-175C>T variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33097823 14743292 CV665184 NM_002180.3(IGHMBP2):c.1235+148A>G variant EFO:0800542 cerotoylcarnitine (C26) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 14743292 CV665184 NM_002180.3(IGHMBP2):c.1235+148A>G variant EFO:0800543 ximenoylcarnitine (C26:1) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 14743463 CV663535 NM_020822.3(KCNT1):c.434+25C>A variant EFO:0004875 mathematical ability IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30038396 14743548 CV664114 NM_020822.3(KCNT1):c.1338-219G>A variant EFO:0011015 educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35361970 14744277 CV668766 NM_016239.4(MYO15A):c.4032+45G>A variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14744277 CV668766 NM_016239.4(MYO15A):c.4032+45G>A variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14744277 CV668766 NM_016239.4(MYO15A):c.4032+45G>A variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 14744514 CV667717 NM_001482.3(GATM):c.485-300G>C variant EFO:0010472 creatine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 14744646 CV658052 NM_000016.4(ACADM):c.-728C>G variant EFO:0021040 hexanoylcarnitine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 14744792 CV658902 NM_001244008.2(KIF1A):c.608+115C>T variant EFO:0008344 response to placebo IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31557306 14744792 CV658902 NM_001244008.2(KIF1A):c.608+115C>T variant EFO:0010339 FVC change measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31557306 14744848 CV666794 NM_004984.4(KIF5A):c.2992+175C>G variant EFO:0004838 calcium measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14744878 CV661392 NM_001098511.3(KIF2A):c.1646+149G>A variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 14745030 CV662555 NM_002291.3(LAMB1):c.1562+230A>G variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 14745082 CV663278 NM_006059.4(LAMC3):c.2347+165C>T variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 14745299 CV663566 NM_001005373.4(LRSAM1):c.1348-108C>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 14745422 CV657421 NM_020247.5(COQ8A):c.1660-262T>A variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 14745422 CV657421 NM_020247.5(COQ8A):c.1660-262T>A variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 14745422 CV657421 NM_020247.5(COQ8A):c.1660-262T>A variant EFO:0005090 basophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 14745422 CV657421 NM_020247.5(COQ8A):c.1660-262T>A variant EFO:0007987 granulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 14745422 CV657421 NM_020247.5(COQ8A):c.1660-262T>A variant EFO:0007997 granulocyte percentage of myeloid white cells IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 14745529 CV670381 NM_000071.3(CBS):c.1358+264A>G variant EFO:0007787 plasma betaine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 14745549 CV666950 NM_000282.4(PCCA):c.105+273G>A variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 14745567 CV664444 NM_001698.2(AUH):c.-243A>G variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14745572 CV667340 NM_000282.4(PCCA):c.2118+191G>C variant EFO:0004847 age at onset IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29808027 14745572 CV667340 NM_000282.4(PCCA):c.2118+191G>C variant EFO:HP:0000545 Myopia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29808027 14745622 CV659365 NM_212552.3(BOLA3):c.54+307G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 14745628 CV659479 NM_212552.3(BOLA3):c.169+321C>T variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 14745685 CV669769 NM_001943.5(DSG2):c.45+257A>C variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 14745699 CV665955 NM_016938.5(EFEMP2):c.727+252A>G variant EFO:0005090 basophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 14745706 CV666041 NM_000289.6(PFKM):c.1062+288T>A variant EFO:0006527 smoking status measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30643251 14745833 CV657048 NM_170707.4(LMNA):c.356+310T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 14745837 CV667876 NM_004937.3(CTNS):c.461+52G>A variant EFO:0802120 tax1-binding protein 3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 14745855 CV670462 NM_033118.4(MYLK2):c.1711-296T>G variant EFO:0007985 platelet crit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14745863 CV662953 NM_000162.5(GCK):c.46-4521C>A variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 14745863 CV662953 NM_000162.5(GCK):c.46-4521C>A variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 14745863 CV662953 NM_000162.5(GCK):c.46-4521C>A variant EFO:0004639 phospholipid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 14745863 CV662953 NM_000162.5(GCK):c.46-4521C>A variant EFO:0007929 triglyceride:HDL cholesterol ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38200128 14745863 CV662953 NM_000162.5(GCK):c.46-4521C>A variant EFO:0008317 obsolete_vldl cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 14745863 CV662953 NM_000162.5(GCK):c.46-4521C>A variant EFO:0008591 free cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 14745863 CV662953 NM_000162.5(GCK):c.46-4521C>A variant EFO:0008596 obsolete_chylomicron measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 14745898 CV656633 NM_002951.5(RPN2):c.1825C>T (p.Leu609=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35831902 14745900 CV663257 NM_201384.3(PLEC):c.2304+252A>G variant EFO:0004838 calcium measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33887147 14745915 CV657896 NM_022114.4(PRDM16):c.677-294A>G variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14745915 CV657896 NM_022114.4(PRDM16):c.677-294A>G variant EFO:0007985 platelet crit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14745938 CV656251 NM_006364.4(SEC23A):c.631C>G (p.Leu211Val) variant EFO:0004631 vitamin D measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32059762 14746026 CV664744 NM_002860.4(ALDH18A1):c.809-330G>A variant EFO:0004462 PR interval IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32439900 14746054 CV667905 NM_005902.4(SMAD3):c.872-297C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 14746060 CV657157 NM_006996.3(SLC19A2):c.807+210T>C variant EFO:0004682 QT interval IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24952745 14746136 CV655577 NM_001379210.1(SLC25A26):c.623C>T (p.Thr208Met) variant EFO:0800111 2,3-dihydroxy-5-methylthio-4-pentenoate (DMTPA) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 14746270 CV662456 NM_005045.4(RELN):c.7490+286T>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 14746371 CV656003 NM_003201.2(TFAM):c.-229A>G variant EFO:0006312 mitochondrial DNA measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35023831 14746395 CV659679 NM_020166.5(MCCC1):c.1083+185G>A variant EFO:0800031 beta-hydroxyisovaleroylcarnitine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 14746563 CV669718 NM_000528.4(MAN2B1):c.910-73A>G variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 14746809 CV672029 NM_002004.4(FDPS):c.1091T>C (p.Val364Ala) variant EFO:0004143 carpal tunnel syndrome IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35332129 14746809 CV672029 NM_002004.4(FDPS):c.1091T>C (p.Val364Ala) variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 14746809 CV672029 NM_002004.4(FDPS):c.1091T>C (p.Val364Ala) variant EFO:0800760 X-16576 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 14746850 CV672156 NM_000527.4(LDLR):c.-2038C>T variant EFO:0000195 metabolic syndrome IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33893285 14746850 CV672156 NM_000527.4(LDLR):c.-2038C>T variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36974753 14746850 CV672156 NM_000527.4(LDLR):c.-2038C>T variant EFO:0008111 diet measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36974753 14975420 CV615619 NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu) variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 14975420 CV615619 NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu) variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 14975420 CV615619 NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu) variant EFO:0005036 obsolete_platelet measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 14975420 CV615619 NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu) variant EFO:0007984 platelet component distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 14975420 CV615619 NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu) variant EFO:0007985 platelet crit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 14975420 CV615619 NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu) variant EFO:0009187 obsolete_immature platelet fraction IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 14975420 CV615619 NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu) variant EFO:0803541 immature platelet measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 14975420 CV615619 NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu) variant EFO:0803544 immature platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 14976026 CV611348 NC_000019.10:g.44905579T>G variant EFO:MONDO:0004975 Alzheimer disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34122051 14976027 CV611349 NM_000041.4(APOE):c.43+520G>A variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14976027 CV611349 NM_000041.4(APOE):c.43+520G>A variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14976027 CV611349 NM_000041.4(APOE):c.43+520G>A variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14976027 CV611349 NM_000041.4(APOE):c.43+520G>A variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14976027 CV611349 NM_000041.4(APOE):c.43+520G>A variant EFO:0004735 serum alanine aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14976027 CV611349 NM_000041.4(APOE):c.43+520G>A variant EFO:0006925 lipoprotein A measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14976027 CV611349 NM_000041.4(APOE):c.43+520G>A variant EFO:0010934 aspartate aminotransferase to alanine aminotransferase ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 14976028 CV611350 NC_000019.10:g.44911194T>C variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:21386085 14976028 CV611350 NC_000019.10:g.44911194T>C variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:21386085 14976028 CV611350 NC_000019.10:g.44911194T>C variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33547301 15015133 CV679730 NM_006060.6(IKZF1):c.851-1312A>G variant EFO:0000220 acute lymphoblastic leukemia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:19684603 15015335 CV679951 NM_004822.3(NTN1):c.1018+5374C>T variant EFO:0007660 neuroticism measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31972866 150330335 CV1166944 NM_052845.4(MMAB):c.290+63T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150330338 CV1167105 NM_022124.6(CDH23):c.5187+99T>C variant EFO:0801493 complement C1q tumor necrosis factor-related protein 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 150330406 CV1164353 NM_005204.4(MAP3K8):c.234T>C (p.Tyr78=) variant EFO:0003767 inflammatory bowel disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23128233 150330408 CV1166888 NM_001876.4(CPT1A):c.2142+93C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150330493 CV1171138 NM_005879.3(TRAIP):c.795+132C>A variant EFO:0008298 thioredoxin domain-containing protein 12 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 150330519 CV1173146 NM_001374385.1(ATP8B1):c.3401-167C>T variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150330519 CV1173146 NM_001374385.1(ATP8B1):c.3401-167C>T variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 150330519 CV1173146 NM_001374385.1(ATP8B1):c.3401-167C>T variant EFO:0010222 ceramide measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:35668104 150330519 CV1173146 NM_001374385.1(ATP8B1):c.3401-167C>T variant EFO:MONDO:0004992 cancer IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36929942 150330533 CV1170659 NM_005401.5(PTPN14):c.*26G>A variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150330572 CV1171069 NM_000340.2(SLC2A2):c.612+208G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150330582 CV1170992 NM_019885.4(CYP26B1):c.791T>C (p.Leu264Ser) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150330845 CV1171544 NM_007109.3(TCF19):c.631A>G (p.Met211Val) variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29632382 150330866 CV1169175 NM_004557.4(NOTCH4):c.4757-73T>C variant EFO:0004984 complement C4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23028341 150330881 CV1171321 NM_198253.3(TERT):c.2383-342A>G variant EFO:0000571 lung adenocarcinoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39366959 150330881 CV1171321 NM_198253.3(TERT):c.2383-342A>G variant EFO:0001663 prostate carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36872133 150330882 CV1168792 NM_198053.3(CD247):c.163-33G>A variant EFO:0000685 rheumatoid arthritis IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:20453842 150330910 CV1168880 NM_001303052.2(MYT1L):c.2712-92G>T variant EFO:0007874 gut microbiome measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27694959 150330985 CV1171466 NM_032119.4(ADGRV1):c.13231+156C>T variant EFO:0004314 forced expiratory volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 150330985 CV1171466 NM_032119.4(ADGRV1):c.13231+156C>T variant EFO:GO:0097366 response to bronchodilator IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 150331027 CV1170653 NM_172351.3(CD46):c.673+58A>G variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150331027 CV1170653 NM_172351.3(CD46):c.673+58A>G variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150331027 CV1170653 NM_172351.3(CD46):c.673+58A>G variant EFO:0007988 obsolete_myeloid white cell count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150331040 CV1169467 NM_015459.5(ATL3):c.1108-207T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150331092 CV1168946 NM_003896.4(ST3GAL5):c.850-187C>T variant EFO:0010222 ceramide measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 150331144 CV1173402 NM_007038.5(ADAMTS5):c.1841G>A (p.Arg614His) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150331144 CV1173402 NM_007038.5(ADAMTS5):c.1841G>A (p.Arg614His) variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31761296 150331144 CV1173402 NM_007038.5(ADAMTS5):c.1841G>A (p.Arg614His) variant EFO:0008326 a disintegrin and metalloproteinase with thrombospondin motifs 5 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28240269 150331176 CV1169725 NM_000342.4(SLC4A1):c.876+107C>T variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150331176 CV1169725 NM_000342.4(SLC4A1):c.876+107C>T variant EFO:0004784 self reported educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30038396 150331208 CV1168847 NM_001367561.1(DOCK7):c.2767-161A>G variant EFO:0010230 phosphatidylinositol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150331310 CV1171927 NM_001377304.1(GFI1B):c.*211C>G variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150331310 CV1171927 NM_001377304.1(GFI1B):c.*211C>G variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150331358 CV1169105 NM_182925.5(FLT4):c.2407-104A>G variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30072576 150331419 CV1169158 NM_182961.4(SYNE1):c.15658-262T>C variant EFO:0004314 forced expiratory volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 150331419 CV1169158 NM_182961.4(SYNE1):c.15658-262T>C variant EFO:GO:0097366 response to bronchodilator IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 150331492 CV1163456 NM_001276277.3(PPIP5K2):c.3682A>G (p.Ser1228Gly) variant EFO:0009961 Insulinogenic index measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23263489 150331502 CV1168905 NM_001370694.2(ANO7):c.2113G>A (p.Ala705Thr) variant EFO:0001663 prostate carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37945903 150331502 CV1168905 NM_001370694.2(ANO7):c.2113G>A (p.Ala705Thr) variant EFO:MONDO:0008315 prostate cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 150331542 CV1163568 NM_153614.4(DNAJB13):c.798-230C>T variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 150331654 CV1169408 NM_001363514.2(DUSP13B):c.875G>A (p.Cys292Tyr) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29273807 150331701 CV1172260 NM_002334.4(LRP4):c.2424+49G>A variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31578528 150331710 CV1172972 NM_152464.3(TMEM199):c.375+18A>G variant EFO:0021843 vitronectin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 150331759 CV1168937 NM_001692.4(ATP6V1B1):c.118+23C>T variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31578528 150331759 CV1168937 NM_001692.4(ATP6V1B1):c.118+23C>T variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35710981 150331790 CV1172170 NM_000392.5(ABCC2):c.4146+154A>G variant EFO:0800279 pregnenediol disulfate (C21H34O8S2) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 150331792 CV1169393 NM_018076.5(ODAD2):c.1534-109A>T variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 150331792 CV1169393 NM_018076.5(ODAD2):c.1534-109A>T variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 150331792 CV1169393 NM_018076.5(ODAD2):c.1534-109A>T variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 150331811 CV1171601 NM_020408.6(LYRM4):c.86+187G>A variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150331811 CV1171601 NM_020408.6(LYRM4):c.86+187G>A variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150331821 CV1169176 NM_004557.4(NOTCH4):c.73+176C>T variant EFO:1001857 Takayasu arteritis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25604533 150331827 CV1163562 NM_001127392.3(MYRF):c.2247+26G>A variant EFO:0000685 rheumatoid arthritis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333501 150331827 CV1163562 NM_001127392.3(MYRF):c.2247+26G>A variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150331827 CV1163562 NM_001127392.3(MYRF):c.2247+26G>A variant EFO:0005653 serum metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29545352 150331827 CV1163562 NM_001127392.3(MYRF):c.2247+26G>A variant EFO:0007791 rheumatoid factor seropositivity measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333501 150331827 CV1163562 NM_001127392.3(MYRF):c.2247+26G>A variant EFO:0007837 anti-citrullinated protein antibody seropositivity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333501 150331827 CV1163562 NM_001127392.3(MYRF):c.2247+26G>A variant EFO:0010224 lysophosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33414548 150331827 CV1163562 NM_001127392.3(MYRF):c.2247+26G>A variant EFO:0010226 phosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150331827 CV1163562 NM_001127392.3(MYRF):c.2247+26G>A variant EFO:0010227 phosphatidylcholine ether measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31551469 150331827 CV1163562 NM_001127392.3(MYRF):c.2247+26G>A variant EFO:0800547 dihomo-linolenoylcarnitine (C20:3n3 or 6) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 150331827 CV1163562 NM_001127392.3(MYRF):c.2247+26G>A variant EFO:OBA:2045093 level of Phosphatidylcholine (18:0_20:3) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37907536 150331932 CV1173046 NM_001267727.2(ARSG):c.1303+149A>G variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150331932 CV1173046 NM_001267727.2(ARSG):c.1303+149A>G variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150331944 CV1173502 NM_000398.7(CYB5R3):c.334-123G>A variant EFO:0010222 ceramide measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37669986 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0008317 obsolete_vldl cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0008589 esterified cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0008592 obsolete_hdl particle size measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0008594 obsolete_vldl particle size measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0008596 obsolete_chylomicron measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0010118 sphingomyelin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0010226 phosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0010343 cholesteryl ester 18:0 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0010351 cholesteryl ester measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0010352 diacylglycerol 34:1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0010353 diacylglycerol 34:2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0010355 diacylglycerol 36:2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0020062 diacylglycerol 36:3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0020069 diacylglycerol 44:7 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0020946 phospholipids:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0021900 cholesterol in large HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0022157 free cholesterol in large HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0022178 triglycerides in large VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0022189 total lipids in large HDL IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0022190 phospholipids in large HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0022229 cholesterol in very large HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0022234 cholesterol to total lipids in large HDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0022236 cholesterol to total lipids in large VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0022239 cholesterol to total lipids in medium VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0022244 cholesterol to total lipids in very large VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0022248 cholesteryl esters to total lipids in large HDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0022250 cholesteryl esters to total lipids in large VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0022253 cholesteryl esters to total lipids in medium VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0022258 cholesteryl esters to total lipids in very large VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0022264 free cholesterol in HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0022273 free cholesterol in very large HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0022279 free cholesterol to total lipids in large HDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0022288 free cholesterol to total lipids in very large HDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0022298 phospholipids in very large HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0022312 total lipids in very large HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332008 CV1163508 NM_000237.3(LPL):c.1323-298T>C variant EFO:0022335 triglycerides to total lipids in medium VLDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150332022 CV1173037 NM_002401.5(MAP3K3):c.710+81G>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:21998595 150332117 CV1163399 NM_001367561.1(DOCK7):c.4764+117A>G variant EFO:0010230 phosphatidylinositol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150332153 CV1169577 NM_014844.5(TECPR2):c.2395-180G>C variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 150332163 CV1168918 NM_003162.4(STRN):c.1324-137A>G variant EFO:0007629 hemoglobin A1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150332170 CV1173342 NM_000178.4(GSS):c.834+224C>A variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38658550 150332232 CV983866 NM_001127217.3(SMAD9):c.-186-7998T>C variant EFO:0005406 colorectal adenoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30510241 150332232 CV983866 NM_001127217.3(SMAD9):c.-186-7998T>C variant EFO:MONDO:0005575 colorectal cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30510241 150332404 CV1169503 NM_001206999.2(CIT):c.1545+76G>A variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 150332432 CV1171398 NM_000505.4(F12):c.1019-28T>C variant EFO:0008292 stem Cell Growth Factor beta measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:27989323 150332432 CV1171398 NM_000505.4(F12):c.1019-28T>C variant EFO:0010071 cardiac troponin I measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31014085 150332497 CV1171975 NM_003383.5(VLDLR):c.326-618A>G variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24097068 150332497 CV1171975 NM_003383.5(VLDLR):c.326-618A>G variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24097068 150332497 CV1171975 NM_003383.5(VLDLR):c.326-618A>G variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150332497 CV1171975 NM_003383.5(VLDLR):c.326-618A>G variant EFO:0005689 non-high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 150332798 CV1170849 NM_173648.4(CCDC141):c.1266-154C>T variant EFO:0020097 QRS-T angle IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36918541 150332828 CV1173009 NM_000342.4(SLC4A1):c.2311+315T>G variant EFO:0004536 total blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150332828 CV1173009 NM_000342.4(SLC4A1):c.2311+315T>G variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 150332828 CV1173009 NM_000342.4(SLC4A1):c.2311+315T>G variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 150332828 CV1173009 NM_000342.4(SLC4A1):c.2311+315T>G variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150332863 CV1173062 NM_003808.4(TNFSF13):c.199G>A (p.Gly67Arg) variant EFO:0004536 total blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150332863 CV1173062 NM_003808.4(TNFSF13):c.199G>A (p.Gly67Arg) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39537608 150332863 CV1173062 NM_003808.4(TNFSF13):c.199G>A (p.Gly67Arg) variant EFO:0008317 obsolete_vldl cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150332863 CV1173062 NM_003808.4(TNFSF13):c.199G>A (p.Gly67Arg) variant EFO:0020946 phospholipids:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150332893 CV1169596 NM_001130004.2(ACTN1):c.105+284C>A variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36292730 150332893 CV1169596 NM_001130004.2(ACTN1):c.105+284C>A variant EFO:MONDO:0005277 migraine disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36292730 150332901 CV1169250 NM_000501.4(ELN):c.2086+242G>A variant EFO:0004874 memory performance IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28800603 150333001 CV1172516 NM_001846.4(COL4A2):c.1777-234A>G variant EFO:0007841 obsolete_facial morphology quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28441456 150333020 CV1169093 NC_000005.10:g.148826178G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150333148 CV1164333 NM_004959.5(NR5A1):c.871-20C>T variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30643251 150333260 CV1171876 NM_152416.4(NDUFAF6):c.477+146C>T variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150333260 CV1171876 NM_152416.4(NDUFAF6):c.477+146C>T variant EFO:MONDO:0004975 Alzheimer disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24162737 150333271 CV1172869 NM_000078.3(CETP):c.930+29G>A variant EFO:0022270 free cholesterol in small HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150333292 CV1172452 NM_001982.4(ERBB3):c.547+143G>A variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 150333382 CV1172788 NM_001369268.1(ACAN):c.2289C>T (p.Pro763=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:21998595 150333401 CV1172867 NM_000078.3(CETP):c.233+197G>A variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28334899 150333401 CV1172867 NM_000078.3(CETP):c.233+197G>A variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30108155 150333401 CV1172867 NM_000078.3(CETP):c.233+197G>A variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150333401 CV1172867 NM_000078.3(CETP):c.233+197G>A variant EFO:0008317 obsolete_vldl cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150333401 CV1172867 NM_000078.3(CETP):c.233+197G>A variant EFO:0008589 esterified cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150333401 CV1172867 NM_000078.3(CETP):c.233+197G>A variant EFO:0008595 intermediate density lipoprotein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150333401 CV1172867 NM_000078.3(CETP):c.233+197G>A variant EFO:0010223 diglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 150333401 CV1172867 NM_000078.3(CETP):c.233+197G>A variant EFO:0010224 lysophosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150333401 CV1172867 NM_000078.3(CETP):c.233+197G>A variant EFO:0010226 phosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150333401 CV1172867 NM_000078.3(CETP):c.233+197G>A variant EFO:0020943 cholesterol:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150333401 CV1172867 NM_000078.3(CETP):c.233+197G>A variant EFO:0020944 cholesteryl esters:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150333401 CV1172867 NM_000078.3(CETP):c.233+197G>A variant EFO:0020946 phospholipids:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150333401 CV1172867 NM_000078.3(CETP):c.233+197G>A variant EFO:0022161 total lipids in IDL IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150333401 CV1172867 NM_000078.3(CETP):c.233+197G>A variant EFO:0022164 phospholipids in IDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150333401 CV1172867 NM_000078.3(CETP):c.233+197G>A variant EFO:0022184 total cholesterol in IDL IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150333401 CV1172867 NM_000078.3(CETP):c.233+197G>A variant EFO:0022301 phospholipids in VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150333401 CV1172867 NM_000078.3(CETP):c.233+197G>A variant EFO:0022309 total lipids in lipoprotein particles measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150333461 CV1168761 NM_004958.4(MTOR):c.3285+38A>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150333466 CV1164546 NM_000479.5(AMH):c.1544T>C (p.Val515Ala) variant EFO:0004769 anti-Mullerian hormone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38815977 150333675 CV1172970 NM_001383.6(DPH1):c.996T>C (p.Pro332=) variant EFO:0000222 acute myeloid leukemia IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27903959 150333812 CV1172310 NM_004357.5(CD151):c.352-166G>A variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150333990 CV1168830 NM_032588.4(TRIM63):c.501+234C>T variant EFO:0011015 educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35361970 150334013 CV1171547 NM_001320.7(CSNK2B):c.292-132A>G variant EFO:0003834 cutaneous lupus erythematosus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25827949 150334069 CV1172562 NM_001382430.1(AKT1):c.46+43G>A variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150334069 CV1172562 NM_001382430.1(AKT1):c.46+43G>A variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 150334069 CV1172562 NM_001382430.1(AKT1):c.46+43G>A variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30275531 150334069 CV1172562 NM_001382430.1(AKT1):c.46+43G>A variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150334069 CV1172562 NM_001382430.1(AKT1):c.46+43G>A variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150334069 CV1172562 NM_001382430.1(AKT1):c.46+43G>A variant EFO:0007929 triglyceride:HDL cholesterol ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38200128 150334082 CV1169861 NM_176812.5(CHMP4B):c.191-295C>T variant EFO:0004468 glucose measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37679419 150334129 CV1173198 NM_003950.4(F2RL3):c.358G>A (p.Ala120Thr) variant EFO:0004985 obsolete_platelet reactivity measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34581777 150334155 CV1170612 NM_000085.5(CLCNKB):c.969-58C>T variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150334317 CV1171760 NM_012301.4(MAGI2):c.3031+259C>T variant EFO:0011013 vaginal microbiome measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34282934 150334318 CV1170629 NM_014625.4(NPHS2):c.452-254A>G variant EFO:MONDO:0100096 COVID-19 IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35224516 150334340 CV1164202 NM_004836.7(EIF2AK3):c.439-170A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150334375 CV1171146 NM_052859.4(RFT1):c.826+232A>G variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 150334583 CV1164279 NM_000301.5(PLG):c.1256+9T>C variant EFO:0006803 vasculitis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36797040 150334698 CV1170555 NM_005167.7(PPM1J):c.639G>T (p.Leu213Phe) variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31451708 150334713 CV1164550 NM_000041.4(APOE):c.-24+69C>G variant EFO:MONDO:0004975 Alzheimer disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30979435 150334774 CV1171934 NM_139027.6(ADAMTS13):c.2420+114C>G variant EFO:0008312 tyrosine-protein kinase receptor Tie-1, soluble measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 150334796 CV1171457 NM_003664.5(AP3B1):c.1474-199C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150334903 CV1164274 NM_000301.5(PLG):c.669-14T>G variant EFO:0006925 lipoprotein A measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28512139 150334948 CV1164275 NM_000301.5(PLG):c.771T>C (p.Cys257=) variant EFO:0006925 lipoprotein A measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150335010 CV1173440 NM_016335.6(PRODH):c.732+83G>A variant EFO:0009773 proline measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31628463 150335182 CV1172689 NM_005739.4(RASGRP1):c.220+1760A>G variant EFO:0004705 hypothyroidism IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39067062 150335589 CV1172272 NM_001127392.3(MYRF):c.3301-71G>A variant EFO:0010224 lysophosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150335589 CV1172272 NM_001127392.3(MYRF):c.3301-71G>A variant EFO:0010225 lysophosphatidylethanolamine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150335589 CV1172272 NM_001127392.3(MYRF):c.3301-71G>A variant EFO:0010228 phosphatidylethanolamine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150335589 CV1172272 NM_001127392.3(MYRF):c.3301-71G>A variant EFO:0010363 lysophosphatidylcholine 20:4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 150335589 CV1172272 NM_001127392.3(MYRF):c.3301-71G>A variant EFO:0010384 phosphatidylcholine 38:2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 150335589 CV1172272 NM_001127392.3(MYRF):c.3301-71G>A variant EFO:OBA:2045083 level of Phosphatidylcholine (16:1_18:2) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36193934 150335626 CV1171844 NM_003867.4(FGF17):c.73-309G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150335755 CV1173215 NM_014727.3(KMT2B):c.2458-189A>G variant EFO:0000685 rheumatoid arthritis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333501 150335755 CV1173215 NM_014727.3(KMT2B):c.2458-189A>G variant EFO:0007791 rheumatoid factor seropositivity measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333501 150335755 CV1173215 NM_014727.3(KMT2B):c.2458-189A>G variant EFO:0007837 anti-citrullinated protein antibody seropositivity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333501 150335755 CV1173215 NM_014727.3(KMT2B):c.2458-189A>G variant EFO:0007991 eosinophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150335854 CV1165158 NM_001282684.2(KCTD17):c.391-182G>T variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33491795 150335854 CV1165158 NM_001282684.2(KCTD17):c.391-182G>T variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150335863 CV1171373 NM_002609.4(PDGFRB):c.*39C>G variant EFO:0008265 obsolete_platelet-derived growth factor receptor beta measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 150335928 CV1171400 NM_014244.5(ADAMTS2):c.2618-54C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37106081 150335960 CV1172901 NM_002661.5(PLCG2):c.2514+175G>C variant EFO:0005193 serum IgG glycosylation measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23382691 150336075 CV1164990 NM_021224.6(ZNF462):c.1210A>G (p.Met404Val) variant EFO:MONDO:0005277 migraine disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35115687 150336097 CV1171157 NM_017563.5(IL17RD):c.764C>T (p.Thr255Met) variant EFO:OBA:2042003 level of interleukin-17 receptor D in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 150336129 CV1165156 NM_012295.4(CABIN1):c.2558G>A (p.Arg853Gln) variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150336228 CV1170765 NM_002303.6(LEPR):c.2673+37C>A variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150336228 CV1170765 NM_002303.6(LEPR):c.2673+37C>A variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150336336 CV1171040 NM_015268.4(DNAJC13):c.4157-267G>A variant EFO:0004535 obsolete_serum albumin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150336336 CV1171040 NM_015268.4(DNAJC13):c.4157-267G>A variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150336336 CV1171040 NM_015268.4(DNAJC13):c.4157-267G>A variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150336336 CV1171040 NM_015268.4(DNAJC13):c.4157-267G>A variant EFO:0004761 uric acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150336352 CV1165133 NM_004793.4(LONP1):c.2320+167G>C variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150336417 CV1170650 NM_173854.6(SLC41A1):c.1073-34C>T variant EFO:MONDO:0005180 Parkinson disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:21738487 150336421 CV1171003 NM_003183.6(ADAM17):c.1345-138G>T variant EFO:0005418 obsolete_serum dimethylarginine measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:24159190 150336432 CV1165136 NM_000064.4(C3):c.1003+25C>G variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150336432 CV1165136 NM_000064.4(C3):c.1003+25C>G variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 150336432 CV1165136 NM_000064.4(C3):c.1003+25C>G variant EFO:0020833 tyrosine-protein kinase ZAP-70 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150336432 CV1165136 NM_000064.4(C3):c.1003+25C>G variant EFO:0802030 RNA-binding protein 24 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150336432 CV1165136 NM_000064.4(C3):c.1003+25C>G variant EFO:0803247 v-set and transmembrane domain-containing protein 4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150336503 CV1172438 NM_005276.4(GPD1):c.590T>C (p.Val197Ala) variant EFO:0021917 glycerol-3-phosphate dehydrogenase [NAD(+)] IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 150336546 CV1172914 NM_001142864.4(PIEZO1):c.3301+55G>A variant EFO:0004995 lean body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 150336567 CV1172461 NM_001478.5(B4GALNT1):c.1384+310C>G variant EFO:0004840 cortical thickness IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32310165 150336649 CV1173248 NM_001042545.2(LTBP4):c.4519+82T>C variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150336736 CV1172727 NM_000138.5(FBN1):c.1588+109C>T variant EFO:0004840 cortical thickness IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34910505 150336741 CV1171894 NM_005502.4(ABCA1):c.160+209A>G variant EFO:0007929 triglyceride:HDL cholesterol ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38200128 150336773 CV1171564 NM_002224.4(ITPR3):c.3523-166G>T variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150336863 CV1170895 NM_015690.5(STK36):c.1429C>T (p.Arg477Trp) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 150337051 CV1171583 NM_020750.3(XPO5):c.2679T>G (p.Arg893=) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32327693 150337051 CV1171583 NM_020750.3(XPO5):c.2679T>G (p.Arg893=) variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36477530 150337155 CV1173254 NM_021913.5(AXL):c.1538-202G>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150337178 CV1172283 NM_016938.5(EFEMP2):c.160+67G>A variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 150337178 CV1172283 NM_016938.5(EFEMP2):c.160+67G>A variant EFO:0005409 obsolete_fat body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 150337231 CV1171657 NM_000245.4(MET):c.2265-314G>A variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 150337374 CV1172291 NC_000011.10:g.68754585G>A variant EFO:0003923 obsolete_bone density IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29304378 150337395 CV1170811 NM_015909.4(NBAS):c.1148-211G>A variant EFO:0004875 mathematical ability IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30038396 150337508 CV1170918 NC_000002.12:g.232520315G>A variant EFO:0004784 self reported educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27020472 150337508 CV1170918 NC_000002.12:g.232520315G>A variant EFO:MONDO:0004892 refractive error IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27020472 150337525 CV1170941 NM_022552.5(DNMT3A):c.2083-272G>A variant EFO:0004624 obsolete_prostate specific antigen measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37264206 150337525 CV1170941 NM_022552.5(DNMT3A):c.2083-272G>A variant EFO:OBA:2050200 prostate specific antigen amount IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37264206 150337581 CV1172792 NM_002693.3(POLG):c.659+91G>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150337684 CV1170640 NM_031935.3(HMCN1):c.14266+17G>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150337684 CV1170640 NM_031935.3(HMCN1):c.14266+17G>C variant EFO:0004713 FEV/FVC ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36914875 150337692 CV1166539 NM_004629.2(FANCG):c.84+77C>A variant EFO:0004309 platelet count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 150337701 CV1166508 NM_000048.4(ASL):c.655+124A>G variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30072576 150337701 CV1166508 NM_000048.4(ASL):c.655+124A>G variant EFO:0801970 protein-tyrosine sulfotransferase 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 150337705 CV1170576 NM_019032.6(ADAMTSL4):c.1576+43G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150337715 CV1166532 NM_000035.4(ALDOB):c.540+84A>C variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37669986 150338164 CV1166899 NM_000260.4(MYO7A):c.6354+35G>A variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150338708 CV1174421 NM_001164508.2(NEB):c.21522+78C>G variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150338739 CV1164075 NM_002256.4(KISS1):c.242C>G (p.Pro81Arg) variant EFO:0004908 testosterone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34321204 150338797 CV1167077 NM_000478.6(ALPL):c.1190-65C>A variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31666285 150338805 CV1174484 NM_004035.7(ACOX1):c.269+4780G>A variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37277652 150338805 CV1174484 NM_004035.7(ACOX1):c.269+4780G>A variant EFO:0005116 urinary metabolite measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31959995 150338837 CV1167086 NM_000098.3(CPT2):c.152+56C>A variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 150338862 CV1167732 NM_016270.4(KLF2):c.311T>C (p.Leu104Pro) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 150338862 CV1167732 NM_016270.4(KLF2):c.311T>C (p.Leu104Pro) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 150338862 CV1167732 NM_016270.4(KLF2):c.311T>C (p.Leu104Pro) variant EFO:HP:0002619 Varicose veins IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150338899 CV1167195 NM_006642.5(SDCCAG8):c.546+182G>A variant EFO:MONDO:0005090 schizophrenia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26198764 150338932 CV1167360 NM_001204375.2(NPR3):c.-250C>A variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33097823 150339040 CV1167416 NM_138295.5(PKD1L1):c.737+207A>G variant EFO:0009586 obsolete_skin hydration measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35313536 150339094 CV1108815 NM_016232.5(IL1RL1):c.1285+361G>A variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150339094 CV1108815 NM_016232.5(IL1RL1):c.1285+361G>A variant EFO:0007990 neutrophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150339101 CV1108819 NM_003855.5(IL18R1):c.810-56C>A variant EFO:MONDO:0004979 asthma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31619474 150339104 CV1108823 NM_001011552.4(SLC9A4):c.363G>A (p.Ser121=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37106081 150339108 CV1108808 NM_000877.4(IL1R1):c.61+1957C>T variant EFO:0005416 obsolete_serum ST2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23999434 150339108 CV1108808 NM_000877.4(IL1R1):c.61+1957C>T variant EFO:0008169 interleukin 1 receptor-like 2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 150339111 CV1108809 NM_000877.4(IL1R1):c.61+2273G>A variant EFO:0008168 interleukin 1 receptor-like 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28240269 150339161 CV1174684 NM_133259.4(LRPPRC):c.4128+37G>A variant EFO:0004337 intelligence IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29942086 150339498 CV1167418 NM_015570.4(AUTS2):c.-3A>G variant EFO:0005424 dyslexia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36266505 150339498 CV1167418 NM_015570.4(AUTS2):c.-3A>G variant EFO:0009931 Agents acting on the renin-angiotensin system use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150339542 CV1167298 NM_001405607.1(PBRM1):c.4725+48T>C variant EFO:0004874 memory performance IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35974141 150339634 CV1167598 NM_004184.4(WARS1):c.826+6A>G variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30072576 150339661 CV1167702 NC_000017.11:g.80101429C>T variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 150339872 CV1167979 NM_006506.5(RASA2):c.356-35A>G variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150339872 CV1167979 NM_006506.5(RASA2):c.356-35A>G variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 150339872 CV1167979 NM_006506.5(RASA2):c.356-35A>G variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 150339872 CV1167979 NM_006506.5(RASA2):c.356-35A>G variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150339885 CV1168149 NM_000127.3(EXT1):c.1285-301C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150339911 CV1167902 NM_001394062.1(MACF1):c.19762-13A>G variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30054458 150339931 CV1168022 NM_032326.4(TMEM175):c.194A>C (p.Gln65Pro) variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 150340028 CV1167998 NM_001128840.3(CACNA1D):c.3516+201G>A variant EFO:0007885 JT interval IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36050321 150340040 CV1168043 NM_001257293.2(HNRNPH1):c.715+4C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150340186 CV1168021 NM_014883.4(FAM13A):c.606-25694C>A variant EFO:0004314 forced expiratory volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 150340186 CV1168021 NM_014883.4(FAM13A):c.606-25694C>A variant EFO:0004713 FEV/FVC ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 150340186 CV1168021 NM_014883.4(FAM13A):c.606-25694C>A variant EFO:GO:0097366 response to bronchodilator IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26634245 150340211 CV1167922 NM_004482.4(GALNT3):c.838+153G>A variant EFO:0003923 obsolete_bone density IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29304378 150340215 CV1168361 NC_000016.10:g.88785260T>G variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150340238 CV1168159 NM_023110.3(FGFR1):c.1855-163G>T variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150340238 CV1168159 NM_023110.3(FGFR1):c.1855-163G>T variant EFO:0004536 total blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150340238 CV1168159 NM_023110.3(FGFR1):c.1855-163G>T variant EFO:0004838 calcium measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150340280 CV1168312 NM_000295.5(SERPINA1):c.917+316C>T variant EFO:0008317 obsolete_vldl cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150340280 CV1168312 NM_000295.5(SERPINA1):c.917+316C>T variant EFO:0008595 intermediate density lipoprotein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150340280 CV1168312 NM_000295.5(SERPINA1):c.917+316C>T variant EFO:0020943 cholesterol:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150340280 CV1168312 NM_000295.5(SERPINA1):c.917+316C>T variant EFO:0020946 phospholipids:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150340280 CV1168312 NM_000295.5(SERPINA1):c.917+316C>T variant EFO:0020947 triglycerides:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150340309 CV1167912 NM_001554.5(CCN1):c.277+50G>C variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30578418 150340394 CV1168311 NM_004239.4(TRIP11):c.5260+24T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150340415 CV1168336 NM_032856.5(WDR73):c.353-300C>A variant EFO:MONDO:0001703 color vision disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37359372 15040208 CV682506 NC_000006.12:g.31826815C>T variant EFO:MONDO:0008315 prostate cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 150404548 CV1195347 NM_003331.5(TYK2):c.3027+66G>C variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 150404548 CV1195347 NM_003331.5(TYK2):c.3027+66G>C variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37106081 150404548 CV1195347 NM_003331.5(TYK2):c.3027+66G>C variant EFO:0005689 non-high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 150404597 CV1178907 NM_001129.5(AEBP1):c.3397A>G (p.Lys1133Glu) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150404664 CV1178914 NM_001324418.2(ADAM22):c.242C>G (p.Pro81Arg) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 150404734 CV1178973 NM_001171.6(ABCC6):c.3506+83A>C variant EFO:0005193 serum IgG glycosylation measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23382691 150404797 CV1178952 NM_139057.4(ADAMTS17):c.617-41A>G variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 150404800 CV1178897 NM_014243.3(ADAMTS3):c.413G>A (p.Arg138Lys) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 15040525 CV682220 NM_006060.6(IKZF1):c.*2279T>G variant EFO:0000220 acute lymphoblastic leukemia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:22076464 150405929 CV1195608 NM_152906.7(TANGO2):c.451+94C>T variant EFO:0009603 stroke outcome severity measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30796134 150407180 CV1199910 NM_015268.4(DNAJC13):c.5018A>G (p.Tyr1673Cys) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150407180 CV1199910 NM_015268.4(DNAJC13):c.5018A>G (p.Tyr1673Cys) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150407180 CV1199910 NM_015268.4(DNAJC13):c.5018A>G (p.Tyr1673Cys) variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150407180 CV1199910 NM_015268.4(DNAJC13):c.5018A>G (p.Tyr1673Cys) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150407180 CV1199910 NM_015268.4(DNAJC13):c.5018A>G (p.Tyr1673Cys) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150407180 CV1199910 NM_015268.4(DNAJC13):c.5018A>G (p.Tyr1673Cys) variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150407180 CV1199910 NM_015268.4(DNAJC13):c.5018A>G (p.Tyr1673Cys) variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150407249 CV1182349 NM_000384.3(APOB):c.237+92G>T variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33547301 150407249 CV1182349 NM_000384.3(APOB):c.237+92G>T variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:35546142 150407249 CV1182349 NM_000384.3(APOB):c.237+92G>T variant EFO:0009312 proprotein convertase subtilisin/kexin type 9 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34648354 150407575 CV1199905 NM_015268.4(DNAJC13):c.2550-9A>T variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 150407675 CV1182433 NM_015114.3(ANKLE2):c.1891+84G>A variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 150408193 CV1199931 NM_133372.3(FNIP1):c.1553G>A (p.Arg518Gln) variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150408193 CV1199931 NM_133372.3(FNIP1):c.1553G>A (p.Arg518Gln) variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32042192 150408193 CV1199931 NM_133372.3(FNIP1):c.1553G>A (p.Arg518Gln) variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150408240 CV1182672 NM_001797.4(CDH11):c.825G>A (p.Met275Ile) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 150408370 CV1182553 NM_015215.4(CAMTA1):c.3658+104T>A variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150408423 CV1182667 NM_144508.5(KNL1):c.6595-27C>T variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150408465 CV1182619 NM_001039706.3(CFAP69):c.2654C>T (p.Thr885Met) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 150408485 CV1182574 NM_001128840.3(CACNA1D):c.2473+103A>T variant EFO:0006527 smoking status measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30643251 150408693 CV1182597 NM_001750.7(CAST):c.1472G>C (p.Cys491Ser) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32778093 150408829 CV1190901 NM_014694.4(ADAMTSL2):c.310-327G>A variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150409000 CV1175194 NM_012203.2(GRHPR):c.-92C>T variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150409105 CV1175240 NM_001169109.2(SCO2):c.-14+522A>G variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37596262 150409105 CV1175240 NM_001169109.2(SCO2):c.-14+522A>G variant EFO:0007997 granulocyte percentage of myeloid white cells IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150409105 CV1175240 NM_001169109.2(SCO2):c.-14+522A>G variant EFO:0010546 uridine measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36635386 150409105 CV1175240 NM_001169109.2(SCO2):c.-14+522A>G variant EFO:0020013 5-methyluridine (ribothymidine) measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36635386 150409105 CV1175240 NM_001169109.2(SCO2):c.-14+522A>G variant EFO:0800643 2'-deoxyuridine measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36635386 150409128 CV1175131 NM_014244.5(ADAMTS2):c.1630-46G>A variant EFO:0010067 corneal resistance factor IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35446358 150409360 CV1175192 NM_178138.6(LHX3):c.251+148T>C variant EFO:0005130 thyroxine measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39266554 150409438 CV1175483 NM_015721.3(GEMIN4):c.10+80C>T variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 150409438 CV1175483 NM_015721.3(GEMIN4):c.10+80C>T variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 150409475 CV1175287 NM_001003841.3(SLC6A19):c.1539-67T>C variant EFO:0002890 renal carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38671320 150409512 CV1175471 NM_001163809.2(WDR81):c.*56A>G variant EFO:0004535 obsolete_serum albumin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150409512 CV1175471 NM_001163809.2(WDR81):c.*56A>G variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32042192 150409512 CV1175471 NM_001163809.2(WDR81):c.*56A>G variant EFO:0004908 testosterone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32042192 150409527 CV1175393 NM_172364.5(CACNA2D4):c.1940+49A>G variant EFO:0009366 obsolete_quality of life during menstruation measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29855537 150409527 CV1175393 NM_172364.5(CACNA2D4):c.1940+49A>G variant EFO:HP:0002829 Arthralgia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29855537 150409784 CV1175428 NM_001318852.2(MAPK8IP3):c.2260A>G (p.Thr754Ala) variant EFO:0004627 IGF-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150409989 CV1175442 NM_004204.5(PIGQ):c.-9-1501A>G variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150409989 CV1175442 NM_004204.5(PIGQ):c.-9-1501A>G variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150409989 CV1175442 NM_004204.5(PIGQ):c.-9-1501A>G variant EFO:0010736 obsolete_cortical surface area measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34560273 150410033 CV1175253 NM_198576.4(AGRN):c.*156C>T variant EFO:0004844 obsolete_hip bone size IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32314116 150410033 CV1175253 NM_198576.4(AGRN):c.*156C>T variant EFO:0007702 hip bone mineral density IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32314116 150410034 CV1175283 NM_000203.5(IDUA):c.299+3990A>G variant EFO:0020139 alpha-L-iduronidase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 150410161 CV1178018 NM_000078.3(CETP):c.930+90G>A variant EFO:0006995 response to diisocyanate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25918132 150410161 CV1178018 NM_000078.3(CETP):c.930+90G>A variant EFO:MONDO:0004979 asthma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25918132 150410510 CV1190132 NM_001148.6(ANK2):c.4404+37T>C variant EFO:0011013 vaginal microbiome measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34282934 150411447 CV1178391 NM_152296.5(ATP1A3):c.1437+322C>T variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 150411656 CV1191552 NC_000014.9:g.102922458C>T variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150412147 CV1196138 NM_001369268.1(ACAN):c.1221C>T (p.Val407=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150412147 CV1196138 NM_001369268.1(ACAN):c.1221C>T (p.Val407=) variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25673412 150412240 CV1196131 NM_001367805.3(KIF23):c.1585T>C (p.Phe529Leu) variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150412359 CV1196135 NM_001369268.1(ACAN):c.306C>A (p.Asp102Glu) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150413707 CV1199834 NM_000743.5(CHRNA3):c.159A>G (p.Val53=) variant EFO:0000341 chronic obstructive pulmonary disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33106845 150413707 CV1199834 NM_000743.5(CHRNA3):c.159A>G (p.Val53=) variant EFO:0000708 squamous cell lung carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28604730 150413707 CV1199834 NM_000743.5(CHRNA3):c.159A>G (p.Val53=) variant EFO:0001071 lung carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29924316 150413707 CV1199834 NM_000743.5(CHRNA3):c.159A>G (p.Val53=) variant EFO:0006525 cigarettes per day measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33082346 150413707 CV1199834 NM_000743.5(CHRNA3):c.159A>G (p.Val53=) variant EFO:0006527 smoking status measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33106845 150413707 CV1199834 NM_000743.5(CHRNA3):c.159A>G (p.Val53=) variant EFO:0006953 family history of lung cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29924316 150413756 CV1192012 NM_001366385.1(CARD14):c.2399-47G>A variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 150413811 CV1178579 NM_003073.5(SMARCB1):c.233-43A>T variant EFO:MONDO:0001703 color vision disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37359372 150413860 CV1199752 NM_001710.6(CFB):c.2140-74A>G variant EFO:0004268 sclerosing cholangitis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36828809 150414149 CV1199805 NM_001273.5(CHD4):c.417G>T (p.Glu139Asp) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150414149 CV1199805 NM_001273.5(CHD4):c.417G>T (p.Glu139Asp) variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150415210 CV1190756 NM_177924.5(ASAH1):c.217-222G>A variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32499647 150415746 CV1177419 NM_000352.6(ABCC8):c.3650+288C>A variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32778093 150416062 CV1191368 NM_015114.3(ANKLE2):c.1231-274A>T variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150416226 CV1196437 NM_001368809.2(AMPD2):c.-263+95A>G variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150416226 CV1196437 NM_001368809.2(AMPD2):c.-263+95A>G variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150416226 CV1196437 NM_001368809.2(AMPD2):c.-263+95A>G variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150417112 CV1199119 NM_004924.6(ACTN4):c.913-144G>C variant EFO:MONDO:0100096 COVID-19 IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35224516 150417165 CV1198914 NM_005208.5(CRYBA1):c.216-71C>T variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150417993 CV1181536 NM_002204.4(ITGA3):c.2071-75G>A variant EFO:0002618 pancreatic carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32887889 150418133 CV1181970 NM_002430.3(MN1):c.1146G>T (p.Gln382His) variant EFO:0000305 breast carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29059683 150418583 CV1195428 NM_000400.4(ERCC2):c.1666-228C>T variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 150418978 CV1198690 NM_032856.5(WDR73):c.198+83T>C variant EFO:MONDO:0001703 color vision disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37359372 150419000 CV1180678 NM_020549.5(CHAT):c.287-442C>T variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32778093 150419047 CV1180902 NM_018480.7(TMEM126B):c.398-301C>T variant EFO:HP:0002140 Ischemic stroke IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33632238 150420247 CV1193873 NM_002291.3(LAMB1):c.2691-297C>T variant EFO:Orphanet:98974 Fuchs endothelial corneal dystrophy IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38582945 150420349 CV1194711 NM_020401.4(NUP107):c.448+202C>T variant EFO:HP:0000131 Uterine leiomyoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36726022 150421020 CV1198226 NM_001098671.2(RASGRP2):c.1592-231C>T variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150421304 CV1181197 NM_013382.7(POMT2):c.1653+129C>T variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32778093 150421435 CV1180256 NM_006348.5(COG5):c.1576-67A>T variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 150421974 CV1193796 NM_138694.4(PKHD1):c.8440+71A>G variant EFO:0007874 gut microbiome measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32572223 150421975 CV1181689 NM_003331.5(TYK2):c.3201-81C>T variant EFO:MONDO:0100096 COVID-19 IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37198478 150422190 CV1194437 NM_001371904.1(APOA5):c.823C>T (p.Gln275Ter) variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150422651 CV1181932 NM_001848.3(COL6A1):c.1336-288G>A variant EFO:0005213 central corneal thickness IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35446358 150422651 CV1181932 NM_001848.3(COL6A1):c.1336-288G>A variant EFO:0010067 corneal resistance factor IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35446358 150422651 CV1181932 NM_001848.3(COL6A1):c.1336-288G>A variant EFO:MONDO:0015486 keratoconus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33649486 150422851 CV1179100 NM_024408.4(NOTCH2):c.4511+52C>T variant EFO:0005055 obsolete_qrs duration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36050321 150422972 CV1181690 NM_003331.5(TYK2):c.2908+178G>A variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37106081 150423073 CV1179298 NM_020631.6(PLEKHG5):c.43+322G>A variant EFO:MONDO:0001703 color vision disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37359372 150424855 CV1183452 NM_001378615.1(CC2D2A):c.2626-260G>A variant EFO:0009262 nicotine dependence symptom count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29532581 150425642 CV1185311 NC_000017.11:g.7225408C>T variant EFO:0005059 acylcarnitine measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:31628463 150426070 CV1183238 NM_000542.5(SFTPB):c.1084-126C>G variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150427769 CV1186494 NM_183357.3(ADCY5):c.*157G>T variant EFO:0004749 CCL2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23251661 150428305 CV1188818 NM_004793.4(LONP1):c.2014-210T>C variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150428422 CV1187839 NM_002834.5(PTPN11):c.*32+267C>T variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35762941 150428666 CV1187906 NM_198578.4(LRRK2):c.7391-177A>G variant EFO:0000384 Crohn's disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26301688 150428666 CV1187906 NM_198578.4(LRRK2):c.7391-177A>G variant EFO:0000676 psoriasis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26301688 150428666 CV1187906 NM_198578.4(LRRK2):c.7391-177A>G variant EFO:0000729 ulcerative colitis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26301688 150428666 CV1187906 NM_198578.4(LRRK2):c.7391-177A>G variant EFO:0001060 celiac disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26301688 150428666 CV1187906 NM_198578.4(LRRK2):c.7391-177A>G variant EFO:0002609 juvenile idiopathic arthritis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26301688 150428666 CV1187906 NM_198578.4(LRRK2):c.7391-177A>G variant EFO:0003898 ankylosing spondylitis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26301688 150428666 CV1187906 NM_198578.4(LRRK2):c.7391-177A>G variant EFO:0005140 autoimmune disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26301688 150428666 CV1187906 NM_198578.4(LRRK2):c.7391-177A>G variant EFO:0006812 autoimmune thyroid disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26301688 150428666 CV1187906 NM_198578.4(LRRK2):c.7391-177A>G variant EFO:MONDO:0005147 type 1 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26301688 150428666 CV1187906 NM_198578.4(LRRK2):c.7391-177A>G variant EFO:MONDO:0007915 systemic lupus erythematosus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26301688 150428666 CV1187906 NM_198578.4(LRRK2):c.7391-177A>G variant EFO:MONDO:0015517 common variable immunodeficiency IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26301688 150428834 CV1186797 NM_139281.3(WDR36):c.1796+205A>G variant EFO:0009943 Antihistamine use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150428957 CV1186482 NM_004082.5(DCTN1):c.393+152T>C variant EFO:0007874 gut microbiome measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32572223 150430113 CV1231988 NM_001369268.1(ACAN):c.6833-153G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150430113 CV1231988 NM_001369268.1(ACAN):c.6833-153G>A variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 150430158 CV1232033 NM_001367943.1(TCF7L2):c.451-22114C>T variant EFO:0000305 breast carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29059683 150430228 CV1232073 NM_018192.4(P3H2):c.481-257T>A variant EFO:0004309 platelet count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150430283 CV1232093 NM_016457.5(PRKD2):c.667-6C>T variant EFO:0000095 chronic lymphocytic leukemia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:18758461 150430324 CV1230823 NC_000016.10:g.679825A>G variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 150430339 CV1242938 NM_170754.4(TNS2):c.729T>C (p.Ser243=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150430355 CV1230838 NC_000011.10:g.67583319C>T variant EFO:0020410 glutathione s-transferase p measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150430555 CV1230937 NM_001361.5(DHODH):c.705+126C>A variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32451486 150430555 CV1230937 NM_001361.5(DHODH):c.705+126C>A variant EFO:0009458 alcohol use disorder measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32451486 150430582 CV1243378 NM_000128.4(F11):c.756-165A>G variant EFO:0011013 vaginal microbiome measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34282934 150430616 CV1243396 NM_001353108.3(CEP63):c.45-236A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150430660 CV1230990 NM_001018115.3(FANCD2):c.2494+100A>G variant EFO:0021870 cysteine-rich with EGF-like domain protein 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 150430663 CV1230991 NM_000892.5(KLKB1):c.1726-40T>C variant EFO:0008260 plasma kallikrein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 150430805 CV1231056 NM_006016.6(CD164):c.*147C>A variant EFO:0007783 mosaic loss of chromosome Y measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:31624269 150430814 CV1231059 NM_016341.4(PLCE1):c.3398-28C>G variant EFO:0004346 neuroimaging measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38811844 150430814 CV1231059 NM_016341.4(PLCE1):c.3398-28C>G variant EFO:0004464 obsolete_brain measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34910505 150430814 CV1231059 NM_016341.4(PLCE1):c.3398-28C>G variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150430814 CV1231059 NM_016341.4(PLCE1):c.3398-28C>G variant EFO:0010736 obsolete_cortical surface area measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34560273 150430814 CV1231059 NM_016341.4(PLCE1):c.3398-28C>G variant EFO:MONDO:0005277 migraine disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34294844 150430915 CV1231093 NM_024422.6(DSC2):c.70-307A>T variant EFO:0021936 desmocollin-2 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29875488 150430998 CV1235300 NM_018244.5(UQCC1):c.152G>A (p.Arg51Gln) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36568030 150430998 CV1235300 NM_018244.5(UQCC1):c.152G>A (p.Arg51Gln) variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30778226 150430999 CV1243550 NM_000208.4(INSR):c.1861+56T>C variant EFO:0000660 polycystic ovary syndrome IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:22885925 150431033 CV1235312 NM_001987.5(ETV6):c.33+209G>C variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150431033 CV1235312 NM_001987.5(ETV6):c.33+209G>C variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150431033 CV1235312 NM_001987.5(ETV6):c.33+209G>C variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150431107 CV1243586 NM_018446.4(GLT8D1):c.329+139A>G variant EFO:0004874 memory performance IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35974141 150431125 CV1235343 NM_000395.3(CSF2RB):c.77-277G>A variant EFO:0000274 atopic eczema IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34454985 150431332 CV1243660 NM_001042545.2(LTBP4):c.3070+174T>G variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150431345 CV1235416 NM_001124758.3(SPNS2):c.792+36C>T variant EFO:OBA:2045176 level of Sphingomyelin (d34:0) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36193934 150431519 CV1235473 NM_001250.6(CD40):c.51+53G>A variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32929287 150431648 CV1234229 NM_001366244.2(GOLGA2):c.827-12C>G variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30239722 150431779 CV1236526 NM_000190.4(HMBS):c.34-96G>T variant EFO:0004343 waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30239722 150431918 CV1200475 NM_004230.4(S1PR2):c.919A>T (p.Arg307Trp) variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150431918 CV1200475 NM_004230.4(S1PR2):c.919A>T (p.Arg307Trp) variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150431918 CV1200475 NM_004230.4(S1PR2):c.919A>T (p.Arg307Trp) variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888494 150431918 CV1200475 NM_004230.4(S1PR2):c.919A>T (p.Arg307Trp) variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888494 150432370 CV1236739 NM_016816.4(OAS1):c.*84G>A variant EFO:MONDO:0100096 COVID-19 IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37198478 150432513 CV1200670 NM_003632.3(CNTNAP1):c.363+142C>T variant EFO:0000305 breast carcinoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29059683 150432727 CV1200772 NM_005751.5(AKAP9):c.8646+78T>C variant EFO:GO:0007623 circadian rhythm IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30120083 150433035 CV1231647 NM_178014.4(TUBB):c.57+87G>T variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34021172 150433035 CV1231647 NM_178014.4(TUBB):c.57+87G>T variant EFO:0009902 handedness IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32989287 150433205 CV1230446 NM_001330677.2(TBX15):c.466C>A (p.His156Asn) variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30778226 150433223 CV1230452 NM_212482.4(FN1):c.5164+277A>T variant EFO:0005091 monocyte count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150433255 CV1216849 NM_181523.3(PIK3R1):c.917-87A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150433455 CV1230531 NM_013372.7(GREM1):c.-2+374G>A variant EFO:0005406 colorectal adenoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30510241 150433455 CV1230531 NM_013372.7(GREM1):c.-2+374G>A variant EFO:MONDO:0005575 colorectal cancer IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38872215 150433533 CV1230557 NM_021977.4(SLC22A3):c.-29G>A variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32042192 150433533 CV1230557 NM_021977.4(SLC22A3):c.-29G>A variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38689001 150433533 CV1230557 NM_021977.4(SLC22A3):c.-29G>A variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38689001 150433533 CV1230557 NM_021977.4(SLC22A3):c.-29G>A variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34021172 150433647 CV1243753 NM_005186.4(CAPN1):c.1298G>C (p.Arg433Pro) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150433776 CV1243786 NM_148674.5(SMC1B):c.3165C>G (p.Phe1055Leu) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28552196 150433951 CV1243830 NM_021098.3(CACNA1H):c.300-341C>T variant EFO:0004319 smoking cessation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 150434048 CV1243854 NM_006598.3(SLC12A7):c.1968-265T>C variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28957414 150434048 CV1243854 NM_006598.3(SLC12A7):c.1968-265T>C variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150434063 CV1217082 NM_006086.4(TUBB3):c.*148G>A variant EFO:0010576 liver fibrosis measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32953199 150434160 CV1243882 NM_025257.3(SLC44A4):c.90-18G>A variant EFO:0004505 obsolete_telomere length IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:20421499 150434192 CV1215828 NM_014730.4(MLEC):c.236-2968C>T variant EFO:0800129 methylsuccinate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 150434243 CV1243902 NM_020750.3(XPO5):c.1095+220G>A variant EFO:0004617 cystatin C measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150434257 CV1243906 NM_005957.5(MTHFR):c.1632+225G>A variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29912962 150434257 CV1243906 NM_005957.5(MTHFR):c.1632+225G>A variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29912962 150434267 CV1215847 NM_001039141.3(TRIOBP):c.4063-21A>C variant EFO:0005090 basophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150434392 CV1215878 NM_001013703.4(EIF2AK4):c.3576+295G>T variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28957414 150434392 CV1215878 NM_001013703.4(EIF2AK4):c.3576+295G>T variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150434392 CV1215878 NM_001013703.4(EIF2AK4):c.3576+295G>T variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28957414 150434464 CV1230794 NM_001379500.1(COL18A1):c.2031+92C>G variant EFO:0007984 platelet component distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150434666 CV1231148 NM_000892.5(KLKB1):c.328+276G>A variant EFO:0010071 cardiac troponin I measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31014085 150434708 CV1244018 NM_003742.4(ABCB11):c.3056+256T>C variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:20858683 150434708 CV1244018 NM_003742.4(ABCB11):c.3056+256T>C variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38689001 150434708 CV1244018 NM_003742.4(ABCB11):c.3056+256T>C variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38689001 150434757 CV1231171 NM_139215.3(TAF15):c.783+320G>A variant EFO:0008053 C-C motif chemokine 5 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28240269 150434836 CV1215990 NM_001127392.3(MYRF):c.3016+162A>G variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150434836 CV1215990 NM_001127392.3(MYRF):c.3016+162A>G variant EFO:0005047 obsolete_erythrocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 150434836 CV1215990 NM_001127392.3(MYRF):c.3016+162A>G variant EFO:0005110 fatty acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150434836 CV1215990 NM_001127392.3(MYRF):c.3016+162A>G variant EFO:0007763 dihomo-gamma-linolenic acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26584805 150434836 CV1215990 NM_001127392.3(MYRF):c.3016+162A>G variant EFO:0010226 phosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150434836 CV1215990 NM_001127392.3(MYRF):c.3016+162A>G variant EFO:0010228 phosphatidylethanolamine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150434836 CV1215990 NM_001127392.3(MYRF):c.3016+162A>G variant EFO:0010230 phosphatidylinositol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150434836 CV1215990 NM_001127392.3(MYRF):c.3016+162A>G variant EFO:0020049 phosphatidylserines measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150434850 CV1244053 NM_030625.3(TET1):c.2751G>A (p.Glu917=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150434877 CV1244060 NM_032317.3(DNAJC30):c.100G>A (p.Gly34Arg) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 150434911 CV1216008 NM_000138.5(FBN1):c.4211-69T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36224396 150434911 CV1216008 NM_000138.5(FBN1):c.4211-69T>C variant EFO:0007009 obsolete_skin pigmentation measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30895295 150434921 CV1244071 NM_182914.3(SYNE2):c.11164-128G>A variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150434921 CV1244071 NM_182914.3(SYNE2):c.11164-128G>A variant EFO:0007630 glycerophospholipid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150434921 CV1244071 NM_182914.3(SYNE2):c.11164-128G>A variant EFO:0010118 sphingomyelin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150434921 CV1244071 NM_182914.3(SYNE2):c.11164-128G>A variant EFO:0010226 phosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150434921 CV1244071 NM_182914.3(SYNE2):c.11164-128G>A variant EFO:0020068 diacylglycerol 42:7 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150434921 CV1244071 NM_182914.3(SYNE2):c.11164-128G>A variant EFO:0020070 diacylglycerol 44:6 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150434934 CV1216014 NM_020166.5(MCCC1):c.1595-178G>A variant EFO:MONDO:0005180 Parkinson disease IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32201043 150434968 CV1216023 NM_001367561.1(DOCK7):c.1800+1580A>C variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39414775 150434995 CV1216030 NM_004793.4(LONP1):c.1686-194C>T variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150434995 CV1216030 NM_004793.4(LONP1):c.1686-194C>T variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888494 150434995 CV1216030 NM_004793.4(LONP1):c.1686-194C>T variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 150434995 CV1216030 NM_004793.4(LONP1):c.1686-194C>T variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150435226 CV1233807 NM_016938.5(EFEMP2):c.727+55T>C variant EFO:0010154 platinum measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31296530 150435226 CV1233807 NM_016938.5(EFEMP2):c.727+55T>C variant EFO:GO:0072718 response to cisplatin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31296530 150435306 CV1233827 NM_022369.4(STRA6):c.1841-132C>T variant EFO:0006782 cups of coffee per day measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31837886 150435306 CV1233827 NM_022369.4(STRA6):c.1841-132C>T variant EFO:0021879 immunoglobulin superfamily containing leucine-rich repeat protein 2 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34857772 150435399 CV1214779 NM_001982.4(ERBB3):c.3129+9A>C variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 150435425 CV1244409 NM_001457.4(FLNB):c.2323+40G>T variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 150435532 CV1233879 NM_003542.4(H4C3):c.105T>C (p.Ile35=) variant EFO:0005854 allergic rhinitis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31361310 150435532 CV1233879 NM_003542.4(H4C3):c.105T>C (p.Ile35=) variant EFO:HP:0000964 Eczematoid dermatitis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31361310 150435583 CV1233896 NM_015136.3(STAB1):c.7517T>C (p.Met2506Thr) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150435583 CV1233896 NM_015136.3(STAB1):c.7517T>C (p.Met2506Thr) variant EFO:0004502 adiponectin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31178129 150435583 CV1233896 NM_015136.3(STAB1):c.7517T>C (p.Met2506Thr) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 150435960 CV1275198 NM_000412.5(HRG):c.1478A>T (p.Asn493Ile) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 150435960 CV1275198 NM_000412.5(HRG):c.1478A>T (p.Asn493Ile) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 150435960 CV1275198 NM_000412.5(HRG):c.1478A>T (p.Asn493Ile) variant EFO:0801847 NTF2-related export protein 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 150436019 CV1249341 NM_002775.5(HTRA1):c.1275-36C>T variant EFO:0004713 FEV/FVC ratio IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30061609 150436501 CV1286383 NM_016341.4(PLCE1):c.4115+26A>C variant EFO:0004344 birth weight IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31043758 150436501 CV1286383 NM_016341.4(PLCE1):c.4115+26A>C variant EFO:0005939 parental genotype effect measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31043758 150436570 CV1275192 NM_000188.3(HK1):c.2219+27T>C variant EFO:0003949 eye color IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29109912 150436577 CV1275197 NM_000412.5(HRG):c.1342C>T (p.Arg448Cys) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150436577 CV1275197 NM_000412.5(HRG):c.1342C>T (p.Arg448Cys) variant EFO:0008078 CD27 antigen measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28240269 150436577 CV1275197 NM_000412.5(HRG):c.1342C>T (p.Arg448Cys) variant EFO:0008113 dual specificity mitogen-activated protein kinase kinase 4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28240269 150436577 CV1275197 NM_000412.5(HRG):c.1342C>T (p.Arg448Cys) variant EFO:0008125 estrogen receptor measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28240269 150436577 CV1275197 NM_000412.5(HRG):c.1342C>T (p.Arg448Cys) variant EFO:0021872 non-histone chromosomal protein HMG-14 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150436577 CV1275197 NM_000412.5(HRG):c.1342C>T (p.Arg448Cys) variant EFO:0801978 protocadherin-10 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150436577 CV1275197 NM_000412.5(HRG):c.1342C>T (p.Arg448Cys) variant EFO:0802201 UPF0577 protein KIAA1324-like measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150436577 CV1275197 NM_000412.5(HRG):c.1342C>T (p.Arg448Cys) variant EFO:0802304 BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150436577 CV1275197 NM_000412.5(HRG):c.1342C>T (p.Arg448Cys) variant EFO:0802997 receptor-interacting serine/threonine-protein kinase 2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150436577 CV1275197 NM_000412.5(HRG):c.1342C>T (p.Arg448Cys) variant EFO:OBA:2041228 level of death-associated protein 1 in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 150436678 CV1249731 NM_001377304.1(GFI1B):c.815-105C>T variant EFO:0802472 disks large homolog 3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150436745 CV1234109 NM_020821.3(VPS13C):c.2921G>A (p.Arg974Lys) variant EFO:0004307 glucose tolerance test IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39280063 150436749 CV1249744 NM_000078.3(CETP):c.119-273C>A variant EFO:0800413 1-stearoyl-2-linoleoyl-GPI (18:0/18:2) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 150436955 CV1249787 NM_001193313.2(SUGCT):c.1154-263C>T variant EFO:0004531 urate measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39406924 150437106 CV1249815 NM_032977.4(CASP10):c.813+39A>T variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150437106 CV1249815 NM_032977.4(CASP10):c.813+39A>T variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150437161 CV1220677 NM_005495.3(SLC17A4):c.1114G>A (p.Ala372Thr) variant EFO:0004761 uric acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:21943158 150437161 CV1220677 NM_005495.3(SLC17A4):c.1114G>A (p.Ala372Thr) variant EFO:0021240 X-11469 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24816252 150437161 CV1220677 NM_005495.3(SLC17A4):c.1114G>A (p.Ala372Thr) variant EFO:0801026 dihydroferulic acid sulfate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 150437248 CV1220691 NM_001377299.1(NDUFS2):c.203-60A>G variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39256582 150437263 CV1220693 NM_000979.4(RPL18):c.198+139G>A variant EFO:0009092 obsolete_breast milk measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39232002 150437308 CV227635 NM_001372076.1(PAX9):c.631+41G>A variant EFO:0000305 breast carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32139696 150437315 CV227637 NM_133509.5(RAD51B):c.1037-26520C>T variant EFO:0000305 breast carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32139696 150437315 CV227637 NM_133509.5(RAD51B):c.1037-26520C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150437396 CV1220714 NM_001361.5(DHODH):c.21+141T>G variant EFO:0004640 haptoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35264221 150437412 CV1286540 NC_000012.12:g.6946217G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150437448 CV1286546 NM_000345.4(SNCA):c.306+66G>A variant EFO:0007660 neuroticism measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29500382 150437517 CV1286558 NM_000128.4(F11):c.-1-196T>G variant EFO:0004286 venous thromboembolism IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23650146 150437707 CV1220764 NC_000008.11:g.58500365G>T variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37669986 150437707 CV1220764 NC_000008.11:g.58500365G>T variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 150437707 CV1220764 NC_000008.11:g.58500365G>T variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37669986 150437712 CV1286589 NM_006745.5(MSMO1):c.686+273T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150437712 CV1286589 NM_006745.5(MSMO1):c.686+273T>C variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 150437735 CV1237918 NM_000443.4(ABCB4):c.2683-197T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150437833 CV1286610 NM_000297.4(PKD2):c.1548+321A>G variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150437892 CV1221085 NC_000013.11:g.38687014T>G variant EFO:0004462 PR interval IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32439900 150437953 CV1286629 NM_001277115.2(DNAH11):c.1426-25G>C variant EFO:0003940 physical activity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30670697 150437953 CV1286629 NM_001277115.2(DNAH11):c.1426-25G>C variant EFO:0004329 alcohol drinking IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30698716 150437953 CV1286629 NM_001277115.2(DNAH11):c.1426-25G>C variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30275531 150437953 CV1286629 NM_001277115.2(DNAH11):c.1426-25G>C variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30670697 150437953 CV1286629 NM_001277115.2(DNAH11):c.1426-25G>C variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30698716 150437953 CV1286629 NM_001277115.2(DNAH11):c.1426-25G>C variant EFO:0020945 free cholesterol:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150438016 CV1237966 NM_003059.3(SLC22A4):c.952-96A>G variant EFO:0000612 myocardial infarction IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33532862 150438053 CV1221109 NM_006371.5(CRTAP):c.472-91A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150438103 CV1260509 NM_015600.5(ABHD12):c.1203A>G (p.Ser401=) variant EFO:0004505 obsolete_telomere length IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30185882 150438211 CV1247140 NM_001172509.2(SATB2):c.-59-231C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150438211 CV1247140 NM_001172509.2(SATB2):c.-59-231C>T variant EFO:0004875 mathematical ability IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30038396 150438211 CV1247140 NM_001172509.2(SATB2):c.-59-231C>T variant EFO:0004995 lean body mass IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38538606 150438429 CV1247170 NM_001085458.2(CTNND1):c.2243-120A>G variant EFO:0008261 plasma protease C1 inhibitor measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 150438441 CV1238023 NM_017934.7(PHIP):c.4630+241C>T variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38689001 150438441 CV1238023 NM_017934.7(PHIP):c.4630+241C>T variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:27618448 150438441 CV1238023 NM_017934.7(PHIP):c.4630+241C>T variant EFO:0006340 mean arterial pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:27618448 150438517 CV1238033 NM_006506.5(RASA2):c.1360-168G>A variant EFO:0005409 obsolete_fat body mass IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38538606 150438517 CV1238033 NM_006506.5(RASA2):c.1360-168G>A variant EFO:0007989 monocyte percentage of leukocytes IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150438517 CV1238033 NM_006506.5(RASA2):c.1360-168G>A variant EFO:0007997 granulocyte percentage of myeloid white cells IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150438598 CV1247194 NM_006598.3(SLC12A7):c.1749-108C>A variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28957414 150438598 CV1247194 NM_006598.3(SLC12A7):c.1749-108C>A variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28957414 150438708 CV1247213 NM_001135556.2(DYNC1I1):c.581-49A>C variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29507422 150438708 CV1247213 NM_001135556.2(DYNC1I1):c.581-49A>C variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29507422 150438708 CV1247213 NM_001135556.2(DYNC1I1):c.581-49A>C variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29507422 150438758 CV1221209 NM_005702.4(ERAL1):c.284-127C>G variant EFO:0005047 obsolete_erythrocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 150438778 CV1247222 NM_000163.5(GHR):c.266+419G>A variant EFO:0802806 neuropeptide S measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150438830 CV1264880 NM_207517.3(ADAMTSL3):c.1981G>T (p.Val661Leu) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:35831902 150438830 CV1264880 NM_207517.3(ADAMTSL3):c.1981G>T (p.Val661Leu) variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28448500 150438962 CV1266704 NM_001365276.2(TNXB):c.9115+209T>C variant EFO:MONDO:0019037 progressive supranuclear palsy IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39251599 150438986 CV1264906 NM_012478.4(WBP2):c.59+207G>T variant EFO:0004309 platelet count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150439060 CV1266720 NM_001143820.2(ETS1):c.*1736A>G variant EFO:0004309 platelet count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150439060 CV1266720 NM_001143820.2(ETS1):c.*1736A>G variant EFO:0007985 platelet crit IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150439117 CV1247677 NM_000218.3(KCNQ1):c.1514+8160A>G variant EFO:0004468 glucose measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33462484 150439117 CV1247677 NM_000218.3(KCNQ1):c.1514+8160A>G variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33462484 150439117 CV1247677 NM_000218.3(KCNQ1):c.1514+8160A>G variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:20581827 150439155 CV1247682 NM_001170543.2(PGAM5):c.*261T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150439225 CV1287013 NM_032387.5(WNK4):c.2041-120G>A variant EFO:0010626 placenta growth factor measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34413389 150439247 CV1247695 NM_001330348.2(TBC1D8):c.2905G>A (p.Gly969Arg) variant EFO:0004531 urate measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33356394 150439247 CV1247695 NM_001330348.2(TBC1D8):c.2905G>A (p.Gly969Arg) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:29083408 150439281 CV1275110 NM_004462.5(FDFT1):c.1033-25T>C variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31761296 150439329 CV1275143 NM_002080.4(GOT2):c.816C>T (p.Cys272=) variant EFO:0800004 imidazole lactate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 150439388 CV1275196 NM_000412.5(HRG):c.610C>T (p.Pro204Ser) variant EFO:0004310 obsolete_partial thromboplastin time IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:20303064 150439388 CV1275196 NM_000412.5(HRG):c.610C>T (p.Pro204Ser) variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150439388 CV1275196 NM_000412.5(HRG):c.610C>T (p.Pro204Ser) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 150439388 CV1275196 NM_000412.5(HRG):c.610C>T (p.Pro204Ser) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 150439388 CV1275196 NM_000412.5(HRG):c.610C>T (p.Pro204Ser) variant EFO:0008078 CD27 antigen measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 150439388 CV1275196 NM_000412.5(HRG):c.610C>T (p.Pro204Ser) variant EFO:0008113 dual specificity mitogen-activated protein kinase kinase 4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 150439388 CV1275196 NM_000412.5(HRG):c.610C>T (p.Pro204Ser) variant EFO:0008155 histidine-rich glycoprotein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 150439388 CV1275196 NM_000412.5(HRG):c.610C>T (p.Pro204Ser) variant EFO:0008258 persulfide dioxygenase ETHE1, mitochondrial measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 150439388 CV1275196 NM_000412.5(HRG):c.610C>T (p.Pro204Ser) variant EFO:OBA:2042247 level of latexin in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34857772 150439393 CV1247713 NM_001206999.2(CIT):c.4685-44G>A variant EFO:0007877 obsolete_risky sexual behaviour measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:30643258 150439510 CV1221315 NM_001375524.1(TRRAP):c.552G>C (p.Val184=) variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150439736 CV1221349 NM_014952.5(BAHD1):c.892C>A (p.Gln298Lys) variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29083408 150439736 CV1221349 NM_014952.5(BAHD1):c.892C>A (p.Gln298Lys) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 150439759 CV1287086 NM_001080512.3(BICC1):c.2827T>C (p.Ser943Pro) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 150439855 CV1221367 NM_006502.3(POLH):c.765-224T>C variant EFO:0004753 interleukin 12 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27989323 150439885 CV1287106 NM_030773.4(TUBB1):c.920G>A (p.Arg307His) variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38064665 150440109 CV1201642 NM_020442.6(VARS2):c.1075-70C>T variant EFO:HP:0012594 Moderate albuminuria IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:31537649 150440395 CV1265103 NM_006016.6(CD164):c.260-272T>A variant EFO:0001071 lung carcinoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28604730 150440623 CV1266943 NM_001846.4(COL4A2):c.315+30T>C variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32778093 150440700 CV1266956 NM_006059.4(LAMC3):c.4231-290T>G variant EFO:0001668 human papilloma virus infection IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34642315 150440700 CV1266956 NM_006059.4(LAMC3):c.4231-290T>G variant EFO:0005570 oral cavity cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34642315 150440705 CV1220201 NM_005666.4(CFHR2):c.420C>T (p.Cys140=) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 150440705 CV1220201 NM_005666.4(CFHR2):c.420C>T (p.Cys140=) variant EFO:0600055 complement factor H-related protein 2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150440796 CV1265458 NM_001145306.2(CDK6):c.*32G>A variant EFO:0004309 platelet count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150440796 CV1265458 NM_001145306.2(CDK6):c.*32G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:25282103 150440796 CV1265458 NM_001145306.2(CDK6):c.*32G>A variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150440796 CV1265458 NM_001145306.2(CDK6):c.*32G>A variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33097823 150440796 CV1265458 NM_001145306.2(CDK6):c.*32G>A variant EFO:0007985 platelet crit IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150440796 CV1265458 NM_001145306.2(CDK6):c.*32G>A variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28552196 150440796 CV1265458 NM_001145306.2(CDK6):c.*32G>A variant EFO:0010076 obsolete_femoral neck size IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38477772 150440796 CV1265458 NM_001145306.2(CDK6):c.*32G>A variant EFO:0803548 neutrophil measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37596262 150440834 CV1220222 NC_000016.10:g.679831C>T variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 150440834 CV1220222 NC_000016.10:g.679831C>T variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 150440842 CV1220224 NM_000626.4(CD79B):c.68-220A>C variant EFO:0004995 lean body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 150440870 CV1246645 NM_001348716.2(KDM6B):c.4044G>A (p.Leu1348=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29782485 150440870 CV1246645 NM_001348716.2(KDM6B):c.4044G>A (p.Leu1348=) variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150441023 CV1246673 NM_172351.3(CD46):c.98-156G>A variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150441023 CV1246673 NM_172351.3(CD46):c.98-156G>A variant EFO:0004645 response to vaccine IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28289848 150441023 CV1246673 NM_172351.3(CD46):c.98-156G>A variant EFO:0006519 MMR-related febrile seizures IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25344690 150441023 CV1246673 NM_172351.3(CD46):c.98-156G>A variant EFO:HP:0002373 Febrile seizure (within the age range of 3 months to 6 years) IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25344690 150441130 CV1267025 NM_198060.4(NRAP):c.3021G>T (p.Pro1007=) variant EFO:0011015 educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35361970 150441144 CV1265513 NM_001127453.2(GSDME):c.576+101C>T variant EFO:0007869 wellbeing measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30643256 150441182 CV1220278 NM_144691.4(CAPN12):c.1957+253C>G variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38064665 150441182 CV1220278 NM_144691.4(CAPN12):c.1957+253C>G variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 150441199 CV1233505 NM_001193375.3(NDUFA11):c.557C>T (p.Ala186Val) variant EFO:0008003 heart rate variability measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28613276 150441219 CV1233508 NM_133509.5(RAD51B):c.1036+44868T>C variant EFO:0000305 breast carcinoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29059683 150441225 CV1246701 NM_001014447.3(CPZ):c.1068+9C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150441229 CV1265750 NM_000966.6(RARG):c.1280C>T (p.Ser427Leu) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36224396 150441229 CV1265750 NM_000966.6(RARG):c.1280C>T (p.Ser427Leu) variant EFO:0005257 response to anthracycline-based chemotherapy IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:26237429 150441229 CV1265750 NM_000966.6(RARG):c.1280C>T (p.Ser427Leu) variant EFO:1001482 cardiotoxicity IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:26237429 150441372 CV1233532 NM_013372.7(GREM1):c.-2+2140A>G variant EFO:MONDO:0005575 colorectal cancer IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:24737748 150441392 CV1274685 NM_001372044.2(SHANK3):c.675+16G>A variant EFO:0004875 mathematical ability IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30038396 150441424 CV1274606 NM_052965.4(TSEN15):c.177A>C (p.Gln59His) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36224396 150441424 CV1274606 NM_052965.4(TSEN15):c.177A>C (p.Gln59His) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 150441424 CV1274606 NM_052965.4(TSEN15):c.177A>C (p.Gln59His) variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28448500 150441565 CV1287586 NM_020719.3(PRR12):c.1830C>T (p.Ala610=) variant EFO:0004623 obsolete_fibrinogen measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26561523 150441577 CV1287588 NM_013372.7(GREM1):c.-2+50G>A variant EFO:0020421 gremlin-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 150441577 CV1287588 NM_013372.7(GREM1):c.-2+50G>A variant EFO:0801656 gremlin-2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150441577 CV1287588 NM_013372.7(GREM1):c.-2+50G>A variant EFO:MONDO:0005575 colorectal cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25990418 150441624 CV1287596 NM_001003699.4(RREB1):c.3511G>A (p.Asp1171Asn) variant EFO:0000305 breast carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29059683 150441624 CV1287596 NM_001003699.4(RREB1):c.3511G>A (p.Asp1171Asn) variant EFO:0000400 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37106081 150441624 CV1287596 NM_001003699.4(RREB1):c.3511G>A (p.Asp1171Asn) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28552196 150441624 CV1287596 NM_001003699.4(RREB1):c.3511G>A (p.Asp1171Asn) variant EFO:0004465 obsolete_fasting blood glucose measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333282 150441624 CV1287596 NM_001003699.4(RREB1):c.3511G>A (p.Asp1171Asn) variant EFO:0004468 glucose measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37679419 150441624 CV1287596 NM_001003699.4(RREB1):c.3511G>A (p.Asp1171Asn) variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150441624 CV1287596 NM_001003699.4(RREB1):c.3511G>A (p.Asp1171Asn) variant EFO:0004536 total blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150441624 CV1287596 NM_001003699.4(RREB1):c.3511G>A (p.Asp1171Asn) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333282 150441624 CV1287596 NM_001003699.4(RREB1):c.3511G>A (p.Asp1171Asn) variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35192695 150441624 CV1287596 NM_001003699.4(RREB1):c.3511G>A (p.Asp1171Asn) variant EFO:0004908 testosterone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32042192 150441624 CV1287596 NM_001003699.4(RREB1):c.3511G>A (p.Asp1171Asn) variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33097823 150441624 CV1287596 NM_001003699.4(RREB1):c.3511G>A (p.Asp1171Asn) variant EFO:0004995 lean body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 150441624 CV1287596 NM_001003699.4(RREB1):c.3511G>A (p.Asp1171Asn) variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 150441624 CV1287596 NM_001003699.4(RREB1):c.3511G>A (p.Asp1171Asn) variant EFO:0009924 Drugs used in diabetes use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31015401 150441624 CV1287596 NM_001003699.4(RREB1):c.3511G>A (p.Asp1171Asn) variant EFO:MONDO:0004992 cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36929942 150441624 CV1287596 NM_001003699.4(RREB1):c.3511G>A (p.Asp1171Asn) variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150441624 CV1287596 NM_001003699.4(RREB1):c.3511G>A (p.Asp1171Asn) variant EFO:MONDO:0005575 colorectal cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36539618 150441635 CV1233575 NM_000138.5(FBN1):c.4460-166C>T variant EFO:MONDO:0004892 refractive error IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32352494 150441670 CV1287604 NM_024408.4(NOTCH2):c.5311-210G>A variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34107879 150441670 CV1287604 NM_024408.4(NOTCH2):c.5311-210G>A variant EFO:0007988 obsolete_myeloid white cell count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150441753 CV1246786 NM_002122.5(HLA-DQA1):c.122T>C (p.Phe41Ser) variant EFO:0007614 asthma exacerbation measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33328473 150441876 CV1264346 NM_182914.3(SYNE2):c.19056+237A>G variant EFO:0000275 atrial fibrillation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36653681 150441943 CV1211140 NM_133267.3(GSX2):c.408T>C (p.His136=) variant EFO:MONDO:0005090 schizophrenia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33169155 150441953 CV1265861 NM_001734.5(C1S):c.6-118C>T variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150442018 CV1265869 NM_198569.3(ADGRG6):c.367A>G (p.Ser123Gly) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150442018 CV1265869 NM_198569.3(ADGRG6):c.367A>G (p.Ser123Gly) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150442041 CV1233633 NM_000316.3(PTH1R):c.178+182C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150442095 CV1233642 NM_020812.4(DOCK6):c.2393-115G>A variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:28334899 150442143 CV1246844 NM_205861.3(DHDDS):c.-55-233A>G variant EFO:0004627 IGF-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150442143 CV1246844 NM_205861.3(DHDDS):c.-55-233A>G variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150442144 CV1264385 NM_001772.4(CD33):c.41C>T (p.Ala14Val) variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150442144 CV1264385 NM_001772.4(CD33):c.41C>T (p.Ala14Val) variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:35459240 150442144 CV1264385 NM_001772.4(CD33):c.41C>T (p.Ala14Val) variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 150442144 CV1264385 NM_001772.4(CD33):c.41C>T (p.Ala14Val) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 150442144 CV1264385 NM_001772.4(CD33):c.41C>T (p.Ala14Val) variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150442144 CV1264385 NM_001772.4(CD33):c.41C>T (p.Ala14Val) variant EFO:0005090 basophil count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150442144 CV1264385 NM_001772.4(CD33):c.41C>T (p.Ala14Val) variant EFO:0007629 hemoglobin A1 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150442144 CV1264385 NM_001772.4(CD33):c.41C>T (p.Ala14Val) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32929287 150442144 CV1264385 NM_001772.4(CD33):c.41C>T (p.Ala14Val) variant EFO:0007985 platelet crit IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150442144 CV1264385 NM_001772.4(CD33):c.41C>T (p.Ala14Val) variant EFO:0007988 obsolete_myeloid white cell count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150442144 CV1264385 NM_001772.4(CD33):c.41C>T (p.Ala14Val) variant EFO:0008238 obsolete_myeloid cell surface antigen cd33 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34648354 150442161 CV1265892 NM_005655.4(KLF10):c.648A>C (p.Thr216=) variant EFO:0006797 neurofibrillary tangles measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31497858 150442209 CV1233660 NM_017644.3(KLHL24):c.747C>T (p.His249=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150442238 CV1287692 NM_152491.5(PM20D1):c.1139T>C (p.Ile380Thr) variant EFO:0004682 QT interval IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29874175 150442253 CV1266198 NM_001734.5(C1S):c.*64G>T variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 150442413 CV1266226 NM_003839.4(TNFRSF11A):c.617-258A>C variant EFO:0004208 Vitiligo IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27723757 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28334899 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28334899 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34321204 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0005110 fatty acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0005653 serum metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29545352 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0005664 blood metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0007630 glycerophospholipid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0010226 phosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0010228 phosphatidylethanolamine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0010230 phosphatidylinositol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0010351 cholesteryl ester measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0010433 triacylglycerol 56:6 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37907536 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0021075 stearidonate 18:4n3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0021434 cholesteryl ester 15:0 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0800189 1,2-dipalmitoyl-GPC (16:0/16:0) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0800244 1-docosahexaenoyl-GPC (22:6) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0800392 1-stearoyl-2-docosahexaenoyl-GPC (18:0/22:6) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0800464 1-(1-enyl-palmitoyl)-2-palmitoleoyl-GPC (P-16:0/16:1) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0800466 1-(1-enyl-palmitoyl)-2-palmitoyl-GPC (P-16:0/16:0) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0800616 eicosapentaenoate (EPA; 20:5n3) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:0803587 C38:2 phosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:OBA:2045076 level of Phosphatidylcholine (16:0_20:4) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37907536 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:OBA:2045079 level of Phosphatidylcholine (16:0_22:5) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37907536 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:OBA:2045087 level of Phosphatidylcholine (17:0_20:4) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37907536 150442715 CV1266277 NM_001127392.3(MYRF):c.2765-20G>A variant EFO:OBA:2045158 level of Phosphatidylinositol (18:0_20:4) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37907536 150442775 CV1266287 NM_005502.4(ABCA1):c.2338-160C>T variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:27668658 150442775 CV1266287 NM_005502.4(ABCA1):c.2338-160C>T variant EFO:0022249 cholesteryl esters to total lipids in large LDL percentage IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 150442821 CV1264498 NM_003024.3(ITSN1):c.623+42A>G variant EFO:0010093 bitter non-alcoholic beverage consumption measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31046077 150442839 CV1264501 NM_000541.5(SAG):c.376-191A>G variant EFO:0004570 bilirubin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150442872 CV1249190 NM_017875.4(SLC25A38):c.792+293C>G variant EFO:MONDO:0004235 diverticulitis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37196047 150442876 CV1266303 NM_001374504.1(TMPRSS6):c.1441+46C>T variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150442876 CV1266303 NM_001374504.1(TMPRSS6):c.1441+46C>T variant EFO:0004570 bilirubin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150442876 CV1266303 NM_001374504.1(TMPRSS6):c.1441+46C>T variant EFO:0005047 obsolete_erythrocyte measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37596262 150442876 CV1266303 NM_001374504.1(TMPRSS6):c.1441+46C>T variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150442999 CV1249212 NM_006005.3(WFS1):c.631+143C>G variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35551307 150443005 CV1249213 NM_001283009.2(RTEL1):c.1037+140A>G variant EFO:0000274 atopic eczema IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26482879 150443005 CV1249213 NM_001283009.2(RTEL1):c.1037+140A>G variant EFO:0000326 central nervous system cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:19578366 150443005 CV1249213 NM_001283009.2(RTEL1):c.1037+140A>G variant EFO:0005543 glioma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:22886559 150443075 CV1287829 NM_018071.5(ARHGEF40):c.877A>G (p.Lys293Glu) variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150443075 CV1287829 NM_018071.5(ARHGEF40):c.877A>G (p.Lys293Glu) variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150443075 CV1287829 NM_018071.5(ARHGEF40):c.877A>G (p.Lys293Glu) variant EFO:0004351 obsolete_resting heart rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27798624 150443075 CV1287829 NM_018071.5(ARHGEF40):c.877A>G (p.Lys293Glu) variant EFO:0004462 PR interval IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32439900 150443075 CV1287829 NM_018071.5(ARHGEF40):c.877A>G (p.Lys293Glu) variant EFO:0004464 obsolete_brain measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34910505 150443075 CV1287829 NM_018071.5(ARHGEF40):c.877A>G (p.Lys293Glu) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150443075 CV1287829 NM_018071.5(ARHGEF40):c.877A>G (p.Lys293Glu) variant EFO:0004840 cortical thickness IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34560273 150443075 CV1287829 NM_018071.5(ARHGEF40):c.877A>G (p.Lys293Glu) variant EFO:0004995 lean body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 150443075 CV1287829 NM_018071.5(ARHGEF40):c.877A>G (p.Lys293Glu) variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150443075 CV1287829 NM_018071.5(ARHGEF40):c.877A>G (p.Lys293Glu) variant EFO:0007985 platelet crit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150443162 CV1249238 NC_000012.12:g.56041628G>A variant EFO:0003959 cleft lip IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28232668 150443162 CV1249238 NC_000012.12:g.56041628G>A variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30239722 150443162 CV1249238 NC_000012.12:g.56041628G>A variant EFO:0009933 Thyroid preparation use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150443162 CV1249238 NC_000012.12:g.56041628G>A variant EFO:HP:0000175 Cleft palate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28232668 150443162 CV1249238 NC_000012.12:g.56041628G>A variant EFO:MONDO:0004979 asthma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32514122 150443266 CV1266371 NM_014494.4(TNRC6A):c.555T>A (p.Asn185Lys) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27618448 150443266 CV1266371 NM_014494.4(TNRC6A):c.555T>A (p.Asn185Lys) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27618448 150443270 CV1249257 NM_000432.4(MYL2):c.402+245T>C variant EFO:0000537 hypertension IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32709000 150443339 CV1266382 NM_014874.4(MFN2):c.-5+90A>G variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150443490 CV1249289 NM_002303.6(LEPR):c.2674-2861C>A variant EFO:0004635 leptin receptor measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28240269 150443520 CV1234173 NM_016356.5(DCDC2):c.294-194A>G variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31015462 150443528 CV1277871 NM_001856.4(COL16A1):c.185C>A (p.Thr62Lys) variant EFO:0004190 open-angle glaucoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37386247 150443528 CV1277871 NM_001856.4(COL16A1):c.185C>A (p.Thr62Lys) variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 150443528 CV1277871 NM_001856.4(COL16A1):c.185C>A (p.Thr62Lys) variant EFO:MONDO:0004979 asthma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31959851 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37106081 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:0004529 lipid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36974753 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:0005653 serum metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29545352 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:0006807 linoleic acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:0007761 docosahexaenoic acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:0007974 vaccenic acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28298293 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:0007975 gondoic acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28298293 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:0008111 diet measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36974753 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:0008589 esterified cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:0008591 free cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:0010119 omega-3 polyunsaturated fatty acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:0010227 phosphatidylcholine ether measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31551469 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:0010230 phosphatidylinositol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:0021462 lysophosphatidylcholine 22:5 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:0022187 monounsaturated fatty acids IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:0022261 degree of unsaturation measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:0022262 docosahexaenoic acid to total fatty acids percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:0022302 polyunsaturated fatty acids to monounsaturated fatty acids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:0800224 1-arachidonylglycerol (20:4) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:OBA:2045102 level of Phosphatidylcholine (18:1_20:2) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36193934 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:OBA:2045109 level of Phosphatidylcholine (18:2_20:4) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36193934 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:OBA:2045130 level of Phosphatidylcholine (O-18:1_20:3) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36193934 150443688 CV1216530 NM_001127392.3(MYRF):c.1312-29T>C variant EFO:OBA:2045147 level of Phosphatidylethanolamine (O-18:1_18:2) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36193934 150443728 CV1277896 NM_001733.7(C1R):c.1038+151T>C variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 150443788 CV1277904 NM_003415.3(ZNF268):c.2037G>T (p.Leu679Phe) variant EFO:0001645 coronary artery disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35915156 150443858 CV1232933 NM_001082538.3(TCTN1):c.341+135C>T variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39537608 150443941 CV1216560 NM_015352.2(POFUT1):c.125-246T>C variant EFO:0000341 chronic obstructive pulmonary disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28166215 150443977 CV1216565 NM_007272.3(CTRC):c.793-137A>G variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39537608 150443983 CV1249352 NC_000009.12:g.136410555C>T variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 150444039 CV1266473 NM_001379451.1(BCORL1):c.625G>A (p.Gly209Ser) variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150444100 CV1287972 NM_001308093.3(GATA4):c.787-224G>A variant EFO:0004329 alcohol drinking IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29912962 150444100 CV1287972 NM_001308093.3(GATA4):c.787-224G>A variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29912962 150444359 CV1216619 NM_018446.4(GLT8D1):c.629G>A (p.Arg210His) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35884923 150444359 CV1216619 NM_018446.4(GLT8D1):c.629G>A (p.Arg210His) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35884923 150444459 CV1266533 NM_182914.3(SYNE2):c.3354-281C>T variant EFO:OBA:2045176 level of Sphingomyelin (d34:0) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36193934 150444473 CV1266535 NM_015021.3(ZNF292):c.5218A>G (p.Ile1740Val) variant EFO:0000275 atrial fibrillation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150444546 CV1258534 NM_139057.4(ADAMTS17):c.1181+118A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150444643 CV1233046 NM_001733.7(C1R):c.550G>A (p.Glu184Lys) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 150444643 CV1233046 NM_001733.7(C1R):c.550G>A (p.Glu184Lys) variant EFO:0007655 clusterin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34648354 150444643 CV1233046 NM_001733.7(C1R):c.550G>A (p.Glu184Lys) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:35078996 150444643 CV1233046 NM_001733.7(C1R):c.550G>A (p.Glu184Lys) variant EFO:0008090 complement C1r subcomponent measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34648354 150444643 CV1233046 NM_001733.7(C1R):c.550G>A (p.Glu184Lys) variant EFO:0020280 complement component 1 q subcomponent-binding protein, mitochondrial measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34648354 150444643 CV1233046 NM_001733.7(C1R):c.550G>A (p.Glu184Lys) variant EFO:0020338 dynactin subunit 2 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34648354 150444643 CV1233046 NM_001733.7(C1R):c.550G>A (p.Glu184Lys) variant EFO:0021878 r-spondin-3 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34648354 150444643 CV1233046 NM_001733.7(C1R):c.550G>A (p.Glu184Lys) variant EFO:0801358 adseverin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29875488 150444643 CV1233046 NM_001733.7(C1R):c.550G>A (p.Glu184Lys) variant EFO:0801801 microfibrillar-associated protein 2 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34648354 150444643 CV1233046 NM_001733.7(C1R):c.550G>A (p.Glu184Lys) variant EFO:0802172 tyrosine-protein phosphatase non-receptor type 4 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34648354 150444643 CV1233046 NM_001733.7(C1R):c.550G>A (p.Glu184Lys) variant EFO:0802538 f-box/LRR-repeat protein 4 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34648354 150444643 CV1233046 NM_001733.7(C1R):c.550G>A (p.Glu184Lys) variant EFO:0802918 prolyl 4-hydroxylase subunit alpha-2 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34648354 150444643 CV1233046 NM_001733.7(C1R):c.550G>A (p.Glu184Lys) variant EFO:OBA:2042780 level of protocadherin-12 in blood serum IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:35870639 150444666 CV1266563 NM_002465.4(MYBPC1):c.1364-97C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150444676 CV1216660 NM_017827.4(SARS2):c.268-26C>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150444731 CV1216668 NM_021090.4(MTMR3):c.*1670C>T variant EFO:0004194 IGA glomerulonephritis IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39343836 150444731 CV1216668 NM_021090.4(MTMR3):c.*1670C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150444731 CV1216668 NM_021090.4(MTMR3):c.*1670C>T variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150444746 CV1266575 NM_001142679.2(ANO6):c.*34G>A variant EFO:0004698 insomnia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29520036 150444758 CV1258565 NM_001330677.2(TBX15):c.206-335C>T variant EFO:0004685 hip geometry IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39574169 150444887 CV1278059 NM_012295.4(CABIN1):c.6041-227G>A variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150444887 CV1278059 NM_012295.4(CABIN1):c.6041-227G>A variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 150444887 CV1278059 NM_012295.4(CABIN1):c.6041-227G>A variant EFO:0005116 urinary metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31959995 150444910 CV1249487 NC_000020.11:g.46021679A>T variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150444910 CV1249487 NC_000020.11:g.46021679A>T variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150444910 CV1249487 NC_000020.11:g.46021679A>T variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150445039 CV1278086 NC_000009.12:g.22103342T>G variant EFO:0004723 coronary artery calcification IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23394302 150445099 CV1261143 NM_005243.4(EWSR1):c.1931+88T>G variant EFO:0004309 platelet count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150445131 CV1233125 NM_133510.4(RAD51B):c.757-26T>C variant EFO:0005666 obsolete_thyroid peroxidase antibody measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39266554 150445168 CV1261154 NM_005560.6(LAMA5):c.7512-37C>T variant EFO:0004710 pelvic organ prolapse IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:26545240 150445168 CV1261154 NM_005560.6(LAMA5):c.7512-37C>T variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31152163 150445197 CV1278112 NM_000511.6(FUT2):c.390C>T (p.Asn130=) variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:22001757 150445197 CV1278112 NM_000511.6(FUT2):c.390C>T (p.Asn130=) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 150445197 CV1278112 NM_000511.6(FUT2):c.390C>T (p.Asn130=) variant EFO:0010155 taste liking measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35585065 150445246 CV1278120 NM_018292.5(QRSL1):c.-55G>A variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150445250 CV1215461 NM_001772.4(CD33):c.205A>G (p.Arg69Gly) variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31551469 150445250 CV1215461 NM_001772.4(CD33):c.205A>G (p.Arg69Gly) variant EFO:0007988 obsolete_myeloid white cell count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32929287 150445285 CV1215467 NM_003661.4(APOL1):c.315-45G>A variant EFO:0801460 CDGSH iron-sulfur domain-containing protein 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 150445292 CV1233153 NM_007191.5(WIF1):c.397+59T>C variant EFO:0004713 FEV/FVC ratio IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:26634245 150445292 CV1233153 NM_007191.5(WIF1):c.397+59T>C variant EFO:GO:0097366 response to bronchodilator IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:26634245 150445308 CV1278130 NM_003442.6(ZNF143):c.1681G>C (p.Glu561Gln) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150445440 CV1269435 NM_002217.4(ITIH3):c.943C>A (p.Gln315Lys) variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 150445440 CV1269435 NM_002217.4(ITIH3):c.943C>A (p.Gln315Lys) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32327693 150445440 CV1269435 NM_002217.4(ITIH3):c.943C>A (p.Gln315Lys) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 150445440 CV1269435 NM_002217.4(ITIH3):c.943C>A (p.Gln315Lys) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27618447 150445523 CV1278166 NM_001670.3(ARVCF):c.659C>T (p.Pro220Leu) variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 150445523 CV1278166 NM_001670.3(ARVCF):c.659C>T (p.Pro220Leu) variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150445583 CV1233203 NM_001369.3(DNAH5):c.58-302A>C variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32778093 150445822 CV1278216 NM_001384125.1(BLTP1):c.6983-186T>C variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150445822 CV1278216 NM_001384125.1(BLTP1):c.6983-186T>C variant EFO:0007991 eosinophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150445873 CV1278225 NM_015450.3(POT1):c.950-258C>T variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150445940 CV1215578 NM_001130144.3(LTBP3):c.3386-50G>A variant EFO:0011015 educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35361970 150445950 CV1271794 NM_006642.5(SDCCAG8):c.741-99A>G variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35710981 150446027 CV1278251 NM_001813.3(CENPE):c.6720+166T>C variant EFO:1000566 Testicular Germ Cell Tumor IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28604732 150446048 CV1215595 NM_001283.5(AP1S1):c.430-90C>T variant EFO:0005408 pyroglutamine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 150446052 CV1278255 NM_001242835.2(NDRG4):c.576G>A (p.Val192=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150446052 CV1278255 NM_001242835.2(NDRG4):c.576G>A (p.Val192=) variant EFO:0010934 aspartate aminotransferase to alanine aminotransferase ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150446065 CV1278257 NM_001277115.2(DNAH11):c.1426-237G>C variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150446065 CV1278257 NM_001277115.2(DNAH11):c.1426-237G>C variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150446065 CV1278257 NM_001277115.2(DNAH11):c.1426-237G>C variant EFO:0008317 obsolete_vldl cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150446065 CV1278257 NM_001277115.2(DNAH11):c.1426-237G>C variant EFO:0008589 esterified cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150446065 CV1278257 NM_001277115.2(DNAH11):c.1426-237G>C variant EFO:0020943 cholesterol:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150446065 CV1278257 NM_001277115.2(DNAH11):c.1426-237G>C variant EFO:0022171 total cholesterol in small VLDL IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150446065 CV1278257 NM_001277115.2(DNAH11):c.1426-237G>C variant EFO:0022182 cholesterol esters in medium VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150446065 CV1278257 NM_001277115.2(DNAH11):c.1426-237G>C variant EFO:0022275 free cholesterol in very small VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150446065 CV1278257 NM_001277115.2(DNAH11):c.1426-237G>C variant EFO:0801920 procollagen C-endopeptidase enhancer 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150446092 CV1278261 NM_017763.6(RNF43):c.375+220T>C variant EFO:0004459 ferritin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39414775 150446210 CV1250635 NM_001395413.1(POR):c.1058-97C>T variant EFO:0021182 X-02249 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 150446368 CV1271858 NM_170754.4(TNS2):c.3448+164G>A variant EFO:0021447 cholesteryl ester 24:4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 150446384 CV1250658 NM_020451.3(SELENON):c.538-145C>G variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 150446461 CV1250669 NM_002293.4(LAMC1):c.3566+85T>G variant EFO:0004995 lean body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 150446637 CV1232132 NM_005245.4(FAT1):c.9229+282A>G variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888494 150446637 CV1232132 NM_005245.4(FAT1):c.9229+282A>G variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888494 150446653 CV1271899 NM_021627.3(SENP2):c.902C>A (p.Thr301Lys) variant EFO:0005055 obsolete_qrs duration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30012220 150446653 CV1271899 NM_021627.3(SENP2):c.902C>A (p.Thr301Lys) variant EFO:0007885 JT interval IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29874175 150446653 CV1271899 NM_021627.3(SENP2):c.902C>A (p.Thr301Lys) variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29632382 150446758 CV1250712 NM_001080472.4(FITM2):c.173+190A>C variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150446826 CV1232159 NM_001303052.2(MYT1L):c.2774+295A>G variant EFO:0004811 interleukin-8 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:27989323 150446829 CV1261421 NM_000297.4(PKD2):c.1549-137T>C variant EFO:0004274 gout IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27899376 150447075 CV1261469 NM_000237.3(LPL):c.1428-11C>T variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31551469 150447156 CV1216072 NM_053056.3(CCND1):c.575-120G>A variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32499647 150447264 CV1250803 NM_000037.4(ANK1):c.5544+146A>G variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:24509480 150447270 CV1250804 NM_170754.4(TNS2):c.522+95C>T variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35762941 150447270 CV1250804 NM_170754.4(TNS2):c.522+95C>T variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150447270 CV1250804 NM_170754.4(TNS2):c.522+95C>T variant EFO:0006340 mean arterial pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150447294 CV1216096 NM_016203.4(PRKAG2):c.467-35078C>T variant EFO:0003884 chronic kidney disease IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:20383146 150447294 CV1216096 NM_016203.4(PRKAG2):c.467-35078C>T variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:26831199 150447294 CV1216096 NM_016203.4(PRKAG2):c.467-35078C>T variant EFO:0004531 urate measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33462484 150447294 CV1216096 NM_016203.4(PRKAG2):c.467-35078C>T variant EFO:0004617 cystatin C measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33462484 150447294 CV1216096 NM_016203.4(PRKAG2):c.467-35078C>T variant EFO:0004838 calcium measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33462484 150447294 CV1216096 NM_016203.4(PRKAG2):c.467-35078C>T variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:26831199 150447294 CV1216096 NM_016203.4(PRKAG2):c.467-35078C>T variant EFO:0009795 obsolete_serum urea measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33462484 150447417 CV1216113 NM_030632.3(ASXL3):c.137+270C>A variant EFO:0004698 insomnia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35835914 150447805 CV1278372 NM_006757.4(TNNT3):c.68-350C>A variant EFO:0010616 renin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33067605 150447852 CV1270370 NM_003922.4(HERC1):c.3113A>C (p.Lys1038Thr) variant EFO:0004307 glucose tolerance test IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29093273 150447852 CV1270370 NM_003922.4(HERC1):c.3113A>C (p.Lys1038Thr) variant EFO:0008463 glucagon measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29093273 150447857 CV1216176 NM_012082.4(ZFPM2):c.420+210C>T variant EFO:0008280 serine protease 27 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150447925 CV1261888 NM_178138.6(LHX3):c.776-129T>G variant EFO:0005130 thyroxine measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39414775 150448059 CV1253497 NM_022092.3(CHTF18):c.2310A>G (p.Ala770=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150448270 CV1270437 NM_001034852.3(SMOC1):c.583+180T>C variant EFO:0006340 mean arterial pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150448656 CV1270493 NM_001715.3(BLK):c.772+199T>C variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150448659 CV1260720 NM_005243.4(EWSR1):c.103-82G>C variant EFO:0000305 breast carcinoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29059683 150448738 CV1270505 NM_174916.3(UBR1):c.*113G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150448738 CV1270505 NM_174916.3(UBR1):c.*113G>A variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:35964923 150448738 CV1270505 NM_174916.3(UBR1):c.*113G>A variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:25961943 150448738 CV1270505 NM_174916.3(UBR1):c.*113G>A variant EFO:0004570 bilirubin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150448738 CV1270505 NM_174916.3(UBR1):c.*113G>A variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33097823 150448835 CV1215032 NC_000008.11:g.19967357G>A variant EFO:0004529 lipid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 150448835 CV1215032 NC_000008.11:g.19967357G>A variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 150448835 CV1215032 NC_000008.11:g.19967357G>A variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150448835 CV1215032 NC_000008.11:g.19967357G>A variant EFO:0004639 phospholipid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 150448835 CV1215032 NC_000008.11:g.19967357G>A variant EFO:0008317 obsolete_vldl cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 150448835 CV1215032 NC_000008.11:g.19967357G>A variant EFO:0008589 esterified cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 150448835 CV1215032 NC_000008.11:g.19967357G>A variant EFO:0010434 triacylglycerol 56:7 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37907536 150448835 CV1215032 NC_000008.11:g.19967357G>A variant EFO:0010815 remnant cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34610981 150448835 CV1215032 NC_000008.11:g.19967357G>A variant EFO:0020945 free cholesterol:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150448835 CV1215032 NC_000008.11:g.19967357G>A variant EFO:0020946 phospholipids:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150448835 CV1215032 NC_000008.11:g.19967357G>A variant EFO:0022322 triglycerides in medium LDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150448869 CV1215036 NM_007357.3(COG2):c.235-178A>G variant EFO:0009323 alpha synuclein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33213513 150448878 CV1270522 NM_004204.5(PIGQ):c.1417-193G>A variant EFO:0004994 lumbar disc degeneration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:22993228 150448912 CV1215041 NM_001160167.2(PRR5L):c.415A>G (p.Thr139Ala) variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150448912 CV1215041 NM_001160167.2(PRR5L):c.415A>G (p.Thr139Ala) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150448912 CV1215041 NM_001160167.2(PRR5L):c.415A>G (p.Thr139Ala) variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150448912 CV1215041 NM_001160167.2(PRR5L):c.415A>G (p.Thr139Ala) variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 150448912 CV1215041 NM_001160167.2(PRR5L):c.415A>G (p.Thr139Ala) variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150449086 CV1215064 NM_004454.3(ETV5):c.-74-273A>G variant EFO:0001073 obesity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23563607 150449086 CV1215064 NM_004454.3(ETV5):c.-74-273A>G variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25673413 150449086 CV1215064 NM_004454.3(ETV5):c.-74-273A>G variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 150449196 CV1215076 NM_019063.5(EML4):c.847A>G (p.Lys283Glu) variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150449268 CV1260799 NM_032638.5(GATA2):c.872-187T>C variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 150449268 CV1260799 NM_032638.5(GATA2):c.872-187T>C variant EFO:0007990 neutrophil percentage of leukocytes IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150449291 CV1215088 NM_018060.4(IARS2):c.2896+115A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150449332 CV1253962 NM_007170.3(TESK2):c.1363C>T (p.Arg455Cys) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34887591 150449332 CV1253962 NM_007170.3(TESK2):c.1363C>T (p.Arg455Cys) variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150449332 CV1253962 NM_007170.3(TESK2):c.1363C>T (p.Arg455Cys) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34887591 150449332 CV1253962 NM_007170.3(TESK2):c.1363C>T (p.Arg455Cys) variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150449332 CV1253962 NM_007170.3(TESK2):c.1363C>T (p.Arg455Cys) variant EFO:0009187 obsolete_immature platelet fraction IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37596262 150449332 CV1253962 NM_007170.3(TESK2):c.1363C>T (p.Arg455Cys) variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888494 150449332 CV1253962 NM_007170.3(TESK2):c.1363C>T (p.Arg455Cys) variant EFO:0803541 immature platelet measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37596262 150449332 CV1253962 NM_007170.3(TESK2):c.1363C>T (p.Arg455Cys) variant EFO:0803544 immature platelet count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37596262 150449509 CV1202450 NM_000080.4(CHRNE):c.918-69A>G variant EFO:0010118 sphingomyelin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31551469 150449509 CV1202450 NM_000080.4(CHRNE):c.918-69A>G variant EFO:OBA:2045176 level of Sphingomyelin (d34:0) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36193934 150449509 CV1202450 NM_000080.4(CHRNE):c.918-69A>G variant EFO:OBA:2045180 level of Sphingomyelin (d38:1) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36193934 150449509 CV1202450 NM_000080.4(CHRNE):c.918-69A>G variant EFO:OBA:2045182 level of Sphingomyelin (d40:1) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36193934 150449509 CV1202450 NM_000080.4(CHRNE):c.918-69A>G variant EFO:OBA:2045183 level of Sphingomyelin (d42:2) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36193934 150449581 CV1273652 NM_000359.3(TGM1):c.1491+54C>T variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150449602 CV1275692 NM_001142864.4(PIEZO1):c.3197-334C>T variant EFO:HP:0002619 Varicose veins IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30566020 150449629 CV1273658 NM_015268.4(DNAJC13):c.5486-280A>G variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150449684 CV1273665 NC_000006.12:g.31879235C>A variant EFO:0004343 waist-hip ratio IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:30575882 150449684 CV1273665 NC_000006.12:g.31879235C>A variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:30575882 150449767 CV1232590 NM_001243279.3(ACSF3):c.822+117G>A variant EFO:0800622 methylmalonate (MMA) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 150449768 CV1215153 NM_015570.4(AUTS2):c.661-144997G>A variant EFO:0009924 Drugs used in diabetes use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150449843 CV1254031 NC_000019.10:g.3094217C>G variant EFO:0004838 calcium measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33887147 150449848 CV1232602 NM_004100.5(EYA4):c.1840-74A>G variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:35710981 150449904 CV1254040 NM_001963.6(EGF):c.941-104T>C variant EFO:0005091 monocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150450061 CV1275757 NM_001710.6(CFB):c.1036+111A>G variant EFO:MONDO:0002009 major depressive disorder IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29662059 150450145 CV1215208 NM_002662.5(PLD1):c.2230-214C>T variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150450204 CV1273738 NM_001360016.2(G6PD):c.121-270G>A variant EFO:0004348 hematocrit IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:23446634 150450204 CV1273738 NM_001360016.2(G6PD):c.121-270G>A variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:23446634 150450204 CV1273738 NM_001360016.2(G6PD):c.121-270G>A variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:23446634 150450216 CV1232652 NM_001384125.1(BLTP1):c.6664C>T (p.Arg2222Trp) variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150450333 CV1260946 NM_000020.3(ACVRL1):c.-5-468C>T variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150450333 CV1260946 NM_000020.3(ACVRL1):c.-5-468C>T variant EFO:0004309 platelet count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150450333 CV1260946 NM_000020.3(ACVRL1):c.-5-468C>T variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 150450333 CV1260946 NM_000020.3(ACVRL1):c.-5-468C>T variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150450333 CV1260946 NM_000020.3(ACVRL1):c.-5-468C>T variant EFO:0005091 monocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150450333 CV1260946 NM_000020.3(ACVRL1):c.-5-468C>T variant EFO:0007985 platelet crit IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150450333 CV1260946 NM_000020.3(ACVRL1):c.-5-468C>T variant EFO:0007988 obsolete_myeloid white cell count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150450399 CV1275802 NM_001944.3(DSG3):c.217-285A>C variant EFO:0004847 age at onset IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:19772629 150450399 CV1275802 NM_001944.3(DSG3):c.217-285A>C variant EFO:MONDO:0005180 Parkinson disease IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:19772629 150450437 CV1254114 NM_002224.4(ITPR3):c.628-166G>A variant EFO:MONDO:0005090 schizophrenia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26198764 150450442 CV1215247 NM_001321759.2(CDIN1):c.477-294G>T variant EFO:0000638 overall survival IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34794066 150450442 CV1215247 NM_001321759.2(CDIN1):c.477-294G>T variant EFO:MONDO:0005575 colorectal cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34794066 150450542 CV1215258 NM_003482.4(KMT2D):c.14383-170T>C variant EFO:MONDO:0004985 bipolar disorder IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:28115744 150450707 CV1276502 NM_002768.5(CHMP1A):c.569+46G>A variant EFO:0009930 Calcium channel blocker use measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31015401 150450722 CV1232712 NM_000077.5(CDKN2A):c.150+459T>C variant EFO:0001645 coronary artery disease IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39537608 150450747 CV1254149 NM_001374828.1(ARID1B):c.2247+35536G>C variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32327693 150450808 CV1260999 NM_205836.3(FBXO38):c.*118A>G variant EFO:0008097 complement factor H measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34260948 150450821 CV1276516 NM_000208.4(INSR):c.653-114T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150450852 CV1275087 NM_005529.7(HSPG2):c.5575+32T>C variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 150450883 CV1232730 NM_003742.4(ABCB11):c.2815-236G>A variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24647736 150450883 CV1232730 NM_003742.4(ABCB11):c.2815-236G>A variant EFO:0007629 hemoglobin A1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0000195 metabolic syndrome IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:31589552 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0000537 hypertension IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:21909115 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004274 gout IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39406924 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004312 vital capacity IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36914875 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004318 smoking behavior IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28443625 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004329 alcohol drinking IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29912962 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004337 intelligence IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29844566 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004340 body mass index IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:25673413 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004346 neuroimaging measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33875891 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004348 hematocrit IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004464 obsolete_brain measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39353893 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36376304 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004531 urate measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33356394 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004535 obsolete_serum albumin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34887591 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36376304 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:20686565 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004616 osteoarthritis, knee IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37247657 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004641 white matter integrity IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33875891 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33980691 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004698 insomnia IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:35835914 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36357675 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004732 lipoprotein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004735 serum alanine aminotransferase measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33980691 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004761 uric acid measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004784 self reported educational attainment IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30038396 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004838 calcium measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33887147 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0004840 cortical thickness IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34560273 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:35710981 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0005271 obsolete_sleep duration IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30846698 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0005278 cardiovascular disease biomarker measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:26908625 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0005421 obsolete_serum homoarginine measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36357675 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0005674 white matter microstructure measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33875891 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38689001 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27618452 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:30578418 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0006340 mean arterial pressure IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:21909110 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0006845 liver disease biomarker IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32247823 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0006930 obsolete_brain volume measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33875891 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0006931 obsolete_nucleus accumbens volume IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31636452 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0006934 obsolete_amygdala volume IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37391117 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0006935 thalamus volume IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34006833 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0006941 grip strength measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33510174 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0007191 cannabis dependence IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37985822 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30239722 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34021172 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0007800 body fat percentage IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33980691 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0007825 balding measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30573740 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:30643258 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0007929 triglyceride:HDL cholesterol ratio IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38200128 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0007984 platelet component distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0007991 eosinophil percentage of leukocytes IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888494 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0008002 physical activity measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28448500 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0008354 cognitive function measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30038396 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0008579 risk-taking behaviour IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:30643258 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0008589 esterified cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38448586 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0008592 obsolete_hdl particle size measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38448586 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0009458 alcohol use disorder measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32451486 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0009902 handedness IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32989287 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0009931 Agents acting on the renin-angiotensin system use measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31015401 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0009946 low density lipoprotein triglyceride measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33980691 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0010118 sphingomyelin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0010155 taste liking measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:35585065 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0010351 cholesteryl ester measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0010736 obsolete_cortical surface area measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34560273 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0010821 liver fat measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32247823 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0020437 heparan-sulfate 6-o-sulfotransferase 1 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34648354 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0020688 protein set measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34648354 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0020946 phospholipids:total lipids ratio IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0021903 cholesterol in medium HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0022237 cholesterol to total lipids in medium HDL percentage IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0022264 free cholesterol in HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0022267 free cholesterol in medium HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0022273 free cholesterol in very large HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38448586 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0022282 free cholesterol to total lipids in medium HDL percentage IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0022288 free cholesterol to total lipids in very large HDL percentage IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0022293 phospholipids in HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0022295 phospholipids in medium HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0022298 phospholipids in very large HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38448586 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0022307 total lipids in HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0022310 total lipids in medium HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36764567 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0022312 total lipids in very large HDL measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38448586 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0800055 argininate measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36635386 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0800056 2-oxoarginine measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:35050183 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0801505 cyclic AMP-dependent transcription factor ATF-6 alpha measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34648354 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0801813 myelin protein P0 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34648354 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0801950 protein kinase C-binding protein NELL1 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34648354 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:0802332 bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34648354 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:1000786 osteoarthritis, hip IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36889626 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:1001178 shoulder impingement syndrome IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33482370 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:1001250 rotator cuff tear IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33482370 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:HP:0000360 Tinnitus IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38242899 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:MONDO:0004892 refractive error IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32352494 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:MONDO:0005090 schizophrenia IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:26198764 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:MONDO:0005178 osteoarthritis IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30664745 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:MONDO:0005180 Parkinson disease IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32201043 150451045 CV1261027 NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) variant EFO:MONDO:0100096 COVID-19 IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39361370 150451338 CV1261533 NM_139027.6(ADAMTS13):c.1092+319T>G variant EFO:0009269 ADAMTS13 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29875488 150451472 CV1254832 NM_002569.4(FURIN):c.-159-2262C>A variant EFO:0000537 hypertension IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30487518 150451472 CV1254832 NM_002569.4(FURIN):c.-159-2262C>A variant EFO:0001645 coronary artery disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26343387 150451472 CV1254832 NM_002569.4(FURIN):c.-159-2262C>A variant EFO:0004321 attempted suicide IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37777856 150451472 CV1254832 NM_002569.4(FURIN):c.-159-2262C>A variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 150451472 CV1254832 NM_002569.4(FURIN):c.-159-2262C>A variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30487518 150451472 CV1254832 NM_002569.4(FURIN):c.-159-2262C>A variant EFO:0006340 mean arterial pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30487518 150451616 CV1232826 NM_144691.4(CAPN12):c.859T>C (p.Cys287Arg) variant EFO:0004309 platelet count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150451715 CV1276631 NM_030928.4(CDT1):c.934-58T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150451793 CV1254873 NM_016362.5(GHRL):c.334+138T>G variant EFO:0600001 ghrelin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37791980 150451825 CV1260308 NM_001365276.2(TNXB):c.7826-152A>G variant EFO:HP:0000155 Oral ulcer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30837455 150451945 CV1232867 NM_001206927.2(DNAH8):c.2260-238G>A variant EFO:0011013 vaginal microbiome measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34282934 150452005 CV1275111 NM_004113.6(FGF12):c.125-21C>T variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28552196 150452039 CV1232881 NM_000446.7(PON1):c.202-121G>A variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150452084 CV1254913 NC_000017.11:g.74748373T>C variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150452084 CV1254913 NC_000017.11:g.74748373T>C variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150452084 CV1254913 NC_000017.11:g.74748373T>C variant EFO:0005090 basophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150452084 CV1254913 NC_000017.11:g.74748373T>C variant EFO:0007993 lymphocyte percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0000305 breast carcinoma IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27197191 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0000571 lung adenocarcinoma IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27197191 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0000685 rheumatoid arthritis IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:20453842 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0000708 squamous cell lung carcinoma IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27197191 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0001060 celiac disease IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:22057235 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0001071 lung carcinoma IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27197191 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0001075 ovarian carcinoma IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27197191 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0001663 prostate carcinoma IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27197191 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0003779 Hashimoto's thyroiditis IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0004230 endometrial neoplasm IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:26621817 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0004268 sclerosing cholangitis IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36828809 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0004309 platelet count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0004340 body mass index IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29273807 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0004344 birth weight IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31043758 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0004348 hematocrit IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0004466 obsolete_fasting blood insulin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39280063 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39280063 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34887591 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34887591 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34887591 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0004705 hypothyroidism IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0004748 obsolete_thyroid stimulating hormone measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32769997 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0004995 lean body mass IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38538606 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0005090 basophil count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0005091 monocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0005197 beta-2 microglobulin measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:23417110 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39256582 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0005674 white matter microstructure measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33875891 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0005939 parental genotype effect measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31043758 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28739976 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28739976 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0007791 rheumatoid factor seropositivity measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36333501 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0007837 anti-citrullinated protein antibody seropositivity IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36333501 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32929287 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0007985 platelet crit IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0007987 granulocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0007988 obsolete_myeloid white cell count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0008204 left ventricular diastolic function measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33495596 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0008206 left ventricular systolic function measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33495596 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0008529 kynurenine measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36635386 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0009933 Thyroid preparation use measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888494 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0020846 obsolete_vascular cell adhesion protein 1 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29875488 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0800701 X-12100 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36635386 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:0803540 eosinophil measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37596262 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:1000650 estrogen-receptor negative breast cancer IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27197191 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:1001512 endometrial carcinoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30093612 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:1001515 ovarian endometrioid carcinoma IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27197191 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:1001516 ovarian serous carcinoma IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27197191 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:MONDO:0005041 glaucoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31959993 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:MONDO:0005147 type 1 diabetes mellitus IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150452098 CV1254915 NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) variant EFO:MONDO:0005575 colorectal cancer IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27197191 150452109 CV1205481 NM_181458.4(PAX3):c.1174-10G>A variant EFO:0004464 obsolete_brain measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34910505 150452162 CV1260355 NM_005245.4(FAT1):c.9230-193C>A variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150452177 CV1231670 NM_198060.4(NRAP):c.2875-191T>G variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36477530 150452249 CV1231682 NM_022095.4(ZNF335):c.2442+202G>A variant EFO:0001645 coronary artery disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29212778 150452346 CV1260383 NM_000355.4(TCN2):c.258-115A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150452379 CV1254956 NM_022455.5(NSD1):c.5147-82T>A variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150452504 CV1219721 NM_001385648.2(B3GNT8):c.621T>C (p.Ser207=) variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 150452769 CV1255008 NM_000541.5(SAG):c.1046+261C>T variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150452892 CV1231762 NM_001382347.1(MYO5A):c.2577+51A>G variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150453031 CV1276799 NM_004119.3(FLT3):c.2418+300G>A variant EFO:0005091 monocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150453140 CV1255049 NM_000392.5(ABCC2):c.3742-34T>C variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38632349 150453140 CV1255049 NM_000392.5(ABCC2):c.3742-34T>C variant EFO:0800276 glycocholenate sulfate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 150453166 CV1276813 NM_002422.5(MMP3):c.1333+115T>C variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30072576 150453357 CV1219822 NM_024101.7(MLPH):c.1040A>G (p.His347Arg) variant EFO:0001663 prostate carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29892016 150453604 CV1219856 NC_000010.11:g.4826111T>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37106081 150453604 CV1219856 NC_000010.11:g.4826111T>A variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 150453909 CV1219900 NM_001243279.3(ACSF3):c.978-52C>T variant EFO:0006794 obsolete_cerebrospinal fluid biomarker measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528826 150453909 CV1219900 NM_001243279.3(ACSF3):c.978-52C>T variant EFO:0020009 ethylmalonate measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528826 150454053 CV1219920 NM_001278.5(CHUK):c.1129-321C>T variant EFO:0004735 serum alanine aminotransferase measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39414775 150454294 CV227634 NM_001367943.1(TCF7L2):c.451-25857A>G variant EFO:0000305 breast carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29059683 150454294 CV227634 NM_001367943.1(TCF7L2):c.451-25857A>G variant EFO:0004282 thoracic aortic aneurysm IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34265237 150454294 CV227634 NM_001367943.1(TCF7L2):c.451-25857A>G variant EFO:1000650 estrogen-receptor negative breast cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29058716 150454327 CV1219960 NM_005228.5(EGFR):c.1880+55C>T variant EFO:0020359 obsolete_epidermal growth factor receptor measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150454333 CV1232251 NM_001376571.1(MADD):c.1041G>A (p.Glu347=) variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150454333 CV1232251 NM_001376571.1(MADD):c.1041G>A (p.Glu347=) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28334899 150454333 CV1232251 NM_001376571.1(MADD):c.1041G>A (p.Glu347=) variant EFO:0008317 obsolete_vldl cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150454333 CV1232251 NM_001376571.1(MADD):c.1041G>A (p.Glu347=) variant EFO:0020946 phospholipids:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150454333 CV1232251 NM_001376571.1(MADD):c.1041G>A (p.Glu347=) variant EFO:0022153 total lipids in medium VLDL IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150454333 CV1232251 NM_001376571.1(MADD):c.1041G>A (p.Glu347=) variant EFO:0022155 triglycerides in medium VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150454333 CV1232251 NM_001376571.1(MADD):c.1041G>A (p.Glu347=) variant EFO:0022170 cholesterol esters in large VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150454333 CV1232251 NM_001376571.1(MADD):c.1041G>A (p.Glu347=) variant EFO:0022175 total lipids in large VLDL IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150454333 CV1232251 NM_001376571.1(MADD):c.1041G>A (p.Glu347=) variant EFO:0022177 total cholesterol in large VLDL IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150454333 CV1232251 NM_001376571.1(MADD):c.1041G>A (p.Glu347=) variant EFO:0022178 triglycerides in large VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150454333 CV1232251 NM_001376571.1(MADD):c.1041G>A (p.Glu347=) variant EFO:0022265 free cholesterol in large VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150454333 CV1232251 NM_001376571.1(MADD):c.1041G>A (p.Glu347=) variant EFO:0022269 free cholesterol in medium VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150454333 CV1232251 NM_001376571.1(MADD):c.1041G>A (p.Glu347=) variant EFO:0022301 phospholipids in VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150454333 CV1232251 NM_001376571.1(MADD):c.1041G>A (p.Glu347=) variant EFO:0022321 triglycerides in medium HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38448586 150454343 CV1232252 NM_182961.4(SYNE1):c.15658-123T>C variant EFO:0004314 forced expiratory volume IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:26634245 150454343 CV1232252 NM_182961.4(SYNE1):c.15658-123T>C variant EFO:GO:0097366 response to bronchodilator IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:26634245 150454485 CV1277009 NM_005422.4(TECTA):c.65-112A>G variant EFO:0009603 stroke outcome severity measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30796134 150454487 CV1232281 NM_001957.4(EDNRA):c.969T>C (p.His323=) variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150454510 CV1277014 NM_000125.4(ESR1):c.1236-128T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150454574 CV1220302 NM_173648.4(CCDC141):c.2803C>T (p.Arg935Trp) variant EFO:0004326 obsolete_heart rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23583979 150454574 CV1220302 NM_173648.4(CCDC141):c.2803C>T (p.Arg935Trp) variant EFO:0005055 obsolete_qrs duration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30012220 150454574 CV1220302 NM_173648.4(CCDC141):c.2803C>T (p.Arg935Trp) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30578418 150454574 CV1220302 NM_173648.4(CCDC141):c.2803C>T (p.Arg935Trp) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30578418 150454724 CV1266060 NM_014844.5(TECPR2):c.3931+183G>A variant EFO:0008158 inosine-5'-monophosphate dehydrogenase 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 150454724 CV1266060 NM_014844.5(TECPR2):c.3931+183G>A variant EFO:0008159 inosine-5'-monophosphate dehydrogenase 2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 150454831 CV1220355 NC_000003.12:g.50351176C>A variant EFO:0005689 non-high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 150454875 CV1220364 NM_182758.4(WDR72):c.261-272G>A variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39256582 150454900 CV1232359 NM_000447.3(PSEN2):c.1191+24G>A variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35710981 150455048 CV1220399 NM_001201479.2(CORO7-PAM16):c.578G>A (p.Arg193Gln) variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:25673412 150455060 CV1266125 NM_001455.4(FOXO3):c.*35-288A>G variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 150455074 CV1232394 NM_000040.3(APOC3):c.179+57G>A variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 150455117 CV1220413 NC_000022.11:g.50578924T>C variant EFO:MONDO:0016158 narcolepsy-cataplexy syndrome IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:18820697 150455240 CV1220431 NM_173527.3(REM2):c.287G>C (p.Gly96Ala) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150455242 CV1259839 NM_018179.5(ATF7IP):c.1589A>G (p.Lys530Arg) variant EFO:0004624 obsolete_prostate specific antigen measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23359319 150455242 CV1259839 NM_018179.5(ATF7IP):c.1589A>G (p.Lys530Arg) variant EFO:OBA:2050200 prostate specific antigen amount IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:23359319 150455476 CV1246921 NM_005656.4(TMPRSS2):c.478G>A (p.Val160Met) variant EFO:MONDO:0100096 COVID-19 IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39361370 150455563 CV1246933 NM_003922.4(HERC1):c.4906-227T>A variant EFO:0007006 depressive symptom measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30643256 150455563 CV1246933 NM_003922.4(HERC1):c.4906-227T>A variant EFO:0007660 neuroticism measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30643256 150455563 CV1246933 NM_003922.4(HERC1):c.4906-227T>A variant EFO:0007869 wellbeing measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30643256 150455598 CV1268957 NM_013254.4(TBK1):c.1341-300G>A variant EFO:MONDO:0004976 amyotrophic lateral sclerosis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27455348 150455632 CV1220488 NM_152467.5(KLHL10):c.1452+28C>A variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150455724 CV1268974 NM_005666.4(CFHR2):c.614-220G>A variant EFO:0020498 interleukin-22 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150455745 CV1268977 NM_001356.5(DDX3X):c.543+184A>G variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150455912 CV1278423 NC_000014.9:g.50944761T>C variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30072576 150455990 CV1269015 NM_001375462.1(LPP):c.1240+75A>G variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35935937 150456110 CV1278454 NM_018691.4(FAM114A2):c.364G>A (p.Gly122Ser) variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28957414 150456187 CV1259976 NM_001982.4(ERBB3):c.547+208G>A variant EFO:0011015 educational attainment IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38250258 150456187 CV1259976 NM_001982.4(ERBB3):c.547+208G>A variant EFO:MONDO:0005351 anorexia nervosa IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38250258 150456214 CV1249583 NM_001127392.3(MYRF):c.2764+73G>A variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150456214 CV1249583 NM_001127392.3(MYRF):c.2764+73G>A variant EFO:0005110 fatty acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150456214 CV1249583 NM_001127392.3(MYRF):c.2764+73G>A variant EFO:0007630 glycerophospholipid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150456214 CV1249583 NM_001127392.3(MYRF):c.2764+73G>A variant EFO:0010119 omega-3 polyunsaturated fatty acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31991592 150456214 CV1249583 NM_001127392.3(MYRF):c.2764+73G>A variant EFO:0010224 lysophosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150456214 CV1249583 NM_001127392.3(MYRF):c.2764+73G>A variant EFO:0010225 lysophosphatidylethanolamine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150456214 CV1249583 NM_001127392.3(MYRF):c.2764+73G>A variant EFO:0010226 phosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150456214 CV1249583 NM_001127392.3(MYRF):c.2764+73G>A variant EFO:0010228 phosphatidylethanolamine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150456214 CV1249583 NM_001127392.3(MYRF):c.2764+73G>A variant EFO:0010230 phosphatidylinositol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150456214 CV1249583 NM_001127392.3(MYRF):c.2764+73G>A variant EFO:0010346 cholesteryl ester 18:3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150456214 CV1249583 NM_001127392.3(MYRF):c.2764+73G>A variant EFO:0010347 cholesteryl ester 20:3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150456214 CV1249583 NM_001127392.3(MYRF):c.2764+73G>A variant EFO:0010349 cholesteryl ester 20:5 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150456214 CV1249583 NM_001127392.3(MYRF):c.2764+73G>A variant EFO:0020049 phosphatidylserines measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150456214 CV1249583 NM_001127392.3(MYRF):c.2764+73G>A variant EFO:0020065 diacylglycerol 38:3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150456214 CV1249583 NM_001127392.3(MYRF):c.2764+73G>A variant EFO:0020066 diacylglycerol 38:4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150456214 CV1249583 NM_001127392.3(MYRF):c.2764+73G>A variant EFO:0020067 diacylglycerol 38:5 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150456214 CV1249583 NM_001127392.3(MYRF):c.2764+73G>A variant EFO:0021462 lysophosphatidylcholine 22:5 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 150456214 CV1249583 NM_001127392.3(MYRF):c.2764+73G>A variant EFO:OBA:2045073 level of Phosphatidylcholine (16:0_20:1) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36193934 150456253 CV1259986 NM_001127392.3(MYRF):c.2014-143A>G variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150456253 CV1259986 NM_001127392.3(MYRF):c.2014-143A>G variant EFO:0005653 serum metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29545352 150456253 CV1259986 NM_001127392.3(MYRF):c.2014-143A>G variant EFO:0007630 glycerophospholipid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150456253 CV1259986 NM_001127392.3(MYRF):c.2014-143A>G variant EFO:0010226 phosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150456253 CV1259986 NM_001127392.3(MYRF):c.2014-143A>G variant EFO:0010228 phosphatidylethanolamine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150456253 CV1259986 NM_001127392.3(MYRF):c.2014-143A>G variant EFO:0010230 phosphatidylinositol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150456253 CV1259986 NM_001127392.3(MYRF):c.2014-143A>G variant EFO:0010435 triacylglycerol 56:8 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37907536 150456253 CV1259986 NM_001127392.3(MYRF):c.2014-143A>G variant EFO:0020047 phosphatidate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150456253 CV1259986 NM_001127392.3(MYRF):c.2014-143A>G variant EFO:0021449 cholesteryl ester 24:6 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 150456253 CV1259986 NM_001127392.3(MYRF):c.2014-143A>G variant EFO:0800248 1-arachidonoyl-GPE (20:4n6) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 150456253 CV1259986 NM_001127392.3(MYRF):c.2014-143A>G variant EFO:OBA:2045097 level of Phosphatidylcholine (18:0_22:6) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36193934 150456253 CV1259986 NM_001127392.3(MYRF):c.2014-143A>G variant EFO:OBA:2045144 level of Phosphatidylethanolamine (O-16:1_18:2) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37907536 150456253 CV1259986 NM_001127392.3(MYRF):c.2014-143A>G variant EFO:OBA:2045155 level of Phosphatidylinositol (18:0_18:1) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36193934 150456253 CV1259986 NM_001127392.3(MYRF):c.2014-143A>G variant EFO:OBA:2045159 level of Phosphatidylinositol (18:1_18:1) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36193934 150456276 CV1235184 NC_000007.14:g.87475843A>G variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888494 150456276 CV1235184 NC_000007.14:g.87475843A>G variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150456276 CV1235184 NC_000007.14:g.87475843A>G variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888494 150456276 CV1235184 NC_000007.14:g.87475843A>G variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150456359 CV1219475 NM_018961.4(UBASH3A):c.1393+3A>C variant EFO:0000685 rheumatoid arthritis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333501 150456359 CV1219475 NM_018961.4(UBASH3A):c.1393+3A>C variant EFO:0003767 inflammatory bowel disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37262302 150456359 CV1219475 NM_018961.4(UBASH3A):c.1393+3A>C variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150456359 CV1219475 NM_018961.4(UBASH3A):c.1393+3A>C variant EFO:0005140 autoimmune disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30572963 150456359 CV1219475 NM_018961.4(UBASH3A):c.1393+3A>C variant EFO:0007791 rheumatoid factor seropositivity measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333501 150456359 CV1219475 NM_018961.4(UBASH3A):c.1393+3A>C variant EFO:0007837 anti-citrullinated protein antibody seropositivity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333501 150456359 CV1219475 NM_018961.4(UBASH3A):c.1393+3A>C variant EFO:0008343 sex interaction measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37262302 150456411 CV1269074 NM_012257.4(HBP1):c.-16+663G>C variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 150456717 CV1219524 NM_000392.5(ABCC2):c.1901-300C>A variant EFO:0004735 serum alanine aminotransferase measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39414775 150456764 CV1278542 NC_000009.12:g.136205289A>G variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32042192 150456764 CV1278542 NC_000009.12:g.136205289A>G variant EFO:0005130 thyroxine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25743335 150456995 CV1260082 NM_001174147.2(LMX1B):c.326+178G>C variant EFO:MONDO:0005041 glaucoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30054594 150457011 CV1278574 NM_033238.3(PML):c.1710+1705A>G variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32541925 150457083 CV1219572 NM_000092.5(COL4A4):c.4090+235T>A variant EFO:0004340 body mass index IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:25673413 150457120 CV1248743 NC_000003.12:g.9933702C>G variant EFO:0004338 body weight IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150457120 CV1248743 NC_000003.12:g.9933702C>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37106081 150457120 CV1248743 NC_000003.12:g.9933702C>G variant EFO:0004995 lean body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 150457120 CV1248743 NC_000003.12:g.9933702C>G variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 150457120 CV1248743 NC_000003.12:g.9933702C>G variant EFO:0021870 cysteine-rich with EGF-like domain protein 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 150457263 CV1219592 NM_015295.3(SMCHD1):c.5547+145C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150457325 CV1219599 NM_000545.8(HNF1A):c.327-91G>A variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 150457340 CV1248770 NM_002085.5(GPX4):c.36G>A (p.Pro12=) variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150457340 CV1248770 NM_002085.5(GPX4):c.36G>A (p.Pro12=) variant EFO:0005090 basophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 150457340 CV1248770 NM_002085.5(GPX4):c.36G>A (p.Pro12=) variant EFO:0007991 eosinophil percentage of leukocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150457340 CV1248770 NM_002085.5(GPX4):c.36G>A (p.Pro12=) variant EFO:0007994 neutrophil percentage of granulocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 150457340 CV1248770 NM_002085.5(GPX4):c.36G>A (p.Pro12=) variant EFO:0007996 eosinophil percentage of granulocytes IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 150457340 CV1248770 NM_002085.5(GPX4):c.36G>A (p.Pro12=) variant EFO:1000391 Nasal Cavity Polyp IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150457358 CV1260127 NM_016180.5(SLC45A2):c.1033-324G>A variant EFO:0008006 obsolete_skin aging measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28502801 150457374 CV1219606 NM_001283009.2(RTEL1):c.302-85C>T variant EFO:0000731 uterine fibroid IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150457624 CV1269516 NM_148172.3(PEMT):c.634G>A (p.Val212Met) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29782485 150457624 CV1269516 NM_148172.3(PEMT):c.634G>A (p.Val212Met) variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29083408 150457624 CV1269516 NM_148172.3(PEMT):c.634G>A (p.Val212Met) variant EFO:0004995 lean body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 150457763 CV1278672 NM_004385.5(VCAN):c.9380-181G>A variant EFO:0010736 obsolete_cortical surface area measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32193296 150457815 CV1260193 NM_005523.6(HOXA11):c.709+284G>A variant EFO:0004318 smoking behavior IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28443625 150457815 CV1260193 NM_005523.6(HOXA11):c.709+284G>A variant EFO:0004343 waist-hip ratio IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:25673412 150457815 CV1260193 NM_005523.6(HOXA11):c.709+284G>A variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:25673412 150457815 CV1260193 NM_005523.6(HOXA11):c.709+284G>A variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28443625 150457815 CV1260193 NM_005523.6(HOXA11):c.709+284G>A variant EFO:0008002 physical activity measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28448500 150457815 CV1260193 NM_005523.6(HOXA11):c.709+284G>A variant EFO:0008007 age at assessment IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:26426971 150457815 CV1260193 NM_005523.6(HOXA11):c.709+284G>A variant EFO:0008343 sex interaction measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:26426971 150458033 CV1248872 NM_139027.6(ADAMTS13):c.1436-272C>T variant EFO:0008011 a disintegrin and metalloproteinase with thrombospondin motifs 13 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 150458132 CV1207356 NM_016284.5(CNOT1):c.5896-5C>T variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30224653 150458324 CV1269617 NC_000007.14:g.92134814C>A variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150458324 CV1269617 NC_000007.14:g.92134814C>A variant EFO:0007991 eosinophil percentage of leukocytes IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888494 150458424 CV1248932 NC_000003.12:g.50191334G>T variant EFO:0004698 insomnia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35835914 150458428 CV1278768 NM_006289.4(TLN1):c.5601C>T (p.Thr1867=) variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 150458451 CV1278772 NM_002585.4(PBX1):c.61G>A (p.Gly21Ser) variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150458451 CV1278772 NM_002585.4(PBX1):c.61G>A (p.Gly21Ser) variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36477530 150458451 CV1278772 NM_002585.4(PBX1):c.61G>A (p.Gly21Ser) variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150458451 CV1278772 NM_002585.4(PBX1):c.61G>A (p.Gly21Ser) variant EFO:0022597 aging IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34187551 150458536 CV1235944 NM_001081442.3(LILRB5):c.740A>G (p.Asp247Gly) variant EFO:0004534 creatine kinase measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:26838040 150458536 CV1235944 NM_001081442.3(LILRB5):c.740A>G (p.Asp247Gly) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:35945198 150458536 CV1235944 NM_001081442.3(LILRB5):c.740A>G (p.Asp247Gly) variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150458536 CV1235944 NM_001081442.3(LILRB5):c.740A>G (p.Asp247Gly) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 150458536 CV1235944 NM_001081442.3(LILRB5):c.740A>G (p.Asp247Gly) variant EFO:0004808 L lactate dehydrogenase measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:26838040 150458536 CV1235944 NM_001081442.3(LILRB5):c.740A>G (p.Asp247Gly) variant EFO:0007929 triglyceride:HDL cholesterol ratio IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38200128 150458536 CV1235944 NM_001081442.3(LILRB5):c.740A>G (p.Asp247Gly) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:35078996 150458536 CV1235944 NM_001081442.3(LILRB5):c.740A>G (p.Asp247Gly) variant EFO:0801769 leukocyte immunoglobulin-like receptor subfamily B member 5 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29875488 150458536 CV1235944 NM_001081442.3(LILRB5):c.740A>G (p.Asp247Gly) variant EFO:OBA:2042201 level of leukocyte immunoglobulin-like receptor subfamily B member 5 in blood serum IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:35870639 150458543 CV1265148 NM_001875.5(CPS1):c.947+323A>G variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36974753 150458543 CV1265148 NM_001875.5(CPS1):c.947+323A>G variant EFO:0008111 diet measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36974753 150458578 CV1269657 NM_003466.4(PAX8):c.778-297G>A variant EFO:0004340 body mass index IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30239722 150458609 CV1248961 NM_000787.4(DBH):c.486+127A>G variant EFO:0004284 upper aerodigestive tract neoplasm IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33667223 150458609 CV1248961 NM_000787.4(DBH):c.486+127A>G variant EFO:0004319 smoking cessation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 150458632 CV1235961 NM_001201550.3(CFHR4):c.1658G>A (p.Gly553Glu) variant EFO:0008149 hemopexin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28240269 150458632 CV1235961 NM_001201550.3(CFHR4):c.1658G>A (p.Gly553Glu) variant EFO:0600057 complement factor H-related protein 4A measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34260947 150458651 CV1269669 NM_020458.4(TTC7A):c.1642-66C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150458863 CV1269705 NM_001159387.2(B4GALNT2):c.954+5G>A variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150458863 CV1269705 NM_001159387.2(B4GALNT2):c.954+5G>A variant EFO:0021778 uromodulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35446786 150458904 CV1263928 NM_001405607.1(PBRM1):c.3736+142A>G variant EFO:0004874 memory performance IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35974141 150458956 CV1236014 NM_014612.5(FAM120A):c.804+111C>T variant EFO:0004784 self reported educational attainment IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27225129 150459113 CV1269750 NM_004795.4(KL):c.1330+143T>G variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 150459191 CV1236061 NM_000780.4(CYP7A1):c.81-14C>T variant EFO:0800203 glycolithocholate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 150459349 CV1268330 NM_001375765.1(GIGYF1):c.482+8G>C variant EFO:0006812 autoimmune thyroid disease IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32581359 150459396 CV1268337 NM_016343.4(CENPF):c.*199G>A variant EFO:0004869 YKL40 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32066700 150459396 CV1268337 NM_016343.4(CENPF):c.*199G>A variant EFO:0004872 inflammatory biomarker measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32066700 150459491 CV1248675 NM_001137601.3(ZBTB42):c.570G>A (p.Leu190=) variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150459549 CV1264034 NC_000006.12:g.31120455A>G variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150459549 CV1264034 NC_000006.12:g.31120455A>G variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150459778 CV1253001 NM_001734.5(C1S):c.1271-181C>T variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150459778 CV1253001 NM_001734.5(C1S):c.1271-181C>T variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 150459987 CV1268424 NM_002225.5(IVD):c.456+215A>G variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 150460003 CV1231267 NC_000006.12:g.109382480G>C variant EFO:0007997 granulocyte percentage of myeloid white cells IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150460097 CV1203469 NM_000199.5(SGSH):c.663+87A>G variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 150460137 CV1231290 NM_001034116.2(EIF2B4):c.418+69A>G variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150460137 CV1231290 NM_001034116.2(EIF2B4):c.418+69A>G variant EFO:0004468 glucose measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150460137 CV1231290 NM_001034116.2(EIF2B4):c.418+69A>G variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150460137 CV1231290 NM_001034116.2(EIF2B4):c.418+69A>G variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150460137 CV1231290 NM_001034116.2(EIF2B4):c.418+69A>G variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150460137 CV1231290 NM_001034116.2(EIF2B4):c.418+69A>G variant EFO:0004533 alkaline phosphatase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150460137 CV1231290 NM_001034116.2(EIF2B4):c.418+69A>G variant EFO:0004535 obsolete_serum albumin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150460137 CV1231290 NM_001034116.2(EIF2B4):c.418+69A>G variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150460137 CV1231290 NM_001034116.2(EIF2B4):c.418+69A>G variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150460137 CV1231290 NM_001034116.2(EIF2B4):c.418+69A>G variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150460137 CV1231290 NM_001034116.2(EIF2B4):c.418+69A>G variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150460137 CV1231290 NM_001034116.2(EIF2B4):c.418+69A>G variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150460137 CV1231290 NM_001034116.2(EIF2B4):c.418+69A>G variant EFO:0004627 IGF-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150460137 CV1231290 NM_001034116.2(EIF2B4):c.418+69A>G variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150460137 CV1231290 NM_001034116.2(EIF2B4):c.418+69A>G variant EFO:0004838 calcium measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150460137 CV1231290 NM_001034116.2(EIF2B4):c.418+69A>G variant EFO:0004908 testosterone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150460137 CV1231290 NM_001034116.2(EIF2B4):c.418+69A>G variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150460224 CV1236216 NM_001130144.3(LTBP3):c.2107+80T>A variant EFO:MONDO:0002009 major depressive disorder IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30718901 150460225 CV1268464 NM_001009899.4(USF3):c.*3781C>A variant EFO:0007785 femoral neck bone mineral density IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:22504420 150460455 CV1231342 NM_014669.5(NUP93):c.490-187T>C variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39537608 150460553 CV1253124 NM_001270508.2(TNFAIP3):c.805+203A>G variant EFO:0000717 systemic scleroderma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38296975 150460808 CV1275874 NM_000497.4(CYP11B1):c.1122-197A>G variant EFO:0004908 testosterone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34321204 150460871 CV1234702 NM_001394062.1(MACF1):c.16889-218G>A variant EFO:0004840 cortical thickness IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38890310 150460873 CV1275883 NM_000342.4(SLC4A1):c.1087+96C>T variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150460873 CV1275883 NM_000342.4(SLC4A1):c.1087+96C>T variant EFO:0004875 mathematical ability IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30038396 150460873 CV1275883 NM_000342.4(SLC4A1):c.1087+96C>T variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888494 150460873 CV1275883 NM_000342.4(SLC4A1):c.1087+96C>T variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888494 150460912 CV1264241 NM_000787.4(DBH):c.922-65G>T variant EFO:0004319 smoking cessation IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30643251 150460935 CV1231413 NM_199168.4(CXCL12):c.61+133A>G variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150460935 CV1231413 NM_199168.4(CXCL12):c.61+133A>G variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150460935 CV1231413 NM_199168.4(CXCL12):c.61+133A>G variant EFO:0005091 monocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150460935 CV1231413 NM_199168.4(CXCL12):c.61+133A>G variant EFO:0007988 obsolete_myeloid white cell count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150461012 CV1231423 NM_005908.4(MANBA):c.674-115A>G variant EFO:0801421 beta-mannosidase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 150461207 CV1264278 NM_173728.4(ARHGEF15):c.1704+12A>G variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 150461207 CV1264278 NM_173728.4(ARHGEF15):c.1704+12A>G variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 150461207 CV1264278 NM_173728.4(ARHGEF15):c.1704+12A>G variant EFO:0004908 testosterone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32042192 150461298 CV1275937 NM_002609.4(PDGFRB):c.2184-200G>A variant EFO:0005091 monocyte count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150461393 CV1215799 NM_001377.3(DYNC2H1):c.6347+66A>G variant EFO:0004695 intraocular pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32352494 150461469 CV1253245 NM_000789.4(ACE):c.1119-202A>G variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33541420 150461469 CV1253245 NM_000789.4(ACE):c.1119-202A>G variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33541420 150461469 CV1253245 NM_000789.4(ACE):c.1119-202A>G variant EFO:MONDO:0004975 Alzheimer disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33541420 150461557 CV1275969 NM_006576.4(AVIL):c.67-155C>T variant EFO:0004875 mathematical ability IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30038396 150461595 CV1272902 NM_152363.6(ANKLE1):c.461-109C>A variant EFO:0000305 breast carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29059683 150461595 CV1272902 NM_152363.6(ANKLE1):c.461-109C>A variant EFO:0006312 mitochondrial DNA measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35023831 150461595 CV1272902 NM_152363.6(ANKLE1):c.461-109C>A variant EFO:MONDO:0007254 breast cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38741014 150461796 CV1272927 NM_020338.4(ZMIZ1):c.-49-17111T>G variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150461835 CV1263280 NM_133263.4(PPARGC1B):c.1705+115A>G variant EFO:0004697 estradiol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23251661 150461871 CV1231531 NM_001135146.2(SLC39A8):c.383-68G>A variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150461871 CV1231531 NM_001135146.2(SLC39A8):c.383-68G>A variant EFO:0004337 intelligence IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:29844566 150461970 CV1253308 NM_007194.4(CHEK2):c.1376-258C>T variant EFO:0004274 gout IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39406924 150462023 CV1234853 NM_002303.6(LEPR):c.2396-86T>A variant EFO:0004635 leptin receptor measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29875488 150462051 CV1272957 NM_001283009.2(RTEL1):c.1192-246C>T variant EFO:0004505 obsolete_telomere length IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37216007 150462073 CV1214593 NM_000301.5(PLG):c.788-268C>T variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 150462158 CV1272971 NM_016219.5(MAN1B1):c.466-159T>C variant EFO:1000881 coronary aneurysm IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33772158 150462287 CV1253351 NM_014112.5(TRPS1):c.37+140C>T variant EFO:0007660 neuroticism measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29942085 150462353 CV1264724 NM_012431.3(SEMA3E):c.457-84C>T variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 150462508 CV1234923 NM_000208.4(INSR):c.1268+92G>A variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 150462509 CV1273020 NM_004434.3(EML1):c.827+40G>C variant EFO:0005035 hippocampal volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37337106 150462573 CV1273029 NM_183050.4(BCKDHB):c.1038+274T>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150462659 CV1253692 NM_017613.4(DONSON):c.1151+101C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150462704 CV1234951 NM_001005388.3(NFASC):c.2148A>G (p.Pro716=) variant EFO:0801831 neurofascin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29875488 150462733 CV1253703 NM_005879.3(TRAIP):c.618-147C>T variant EFO:0004531 urate measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33356394 150462733 CV1253703 NM_005879.3(TRAIP):c.618-147C>T variant EFO:0008154 obsolete_hepatocyte growth factor-like protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36168886 150462845 CV1253720 NM_012108.4(STAP1):c.530+60A>G variant EFO:1000616 Uveal Melanoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31626034 150463161 CV1214746 NM_001378452.1(ITPR1):c.2598+187T>C variant EFO:0000731 uterine fibroid IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150463162 CV1276185 NM_002422.5(MMP3):c.935+132A>T variant EFO:0004713 FEV/FVC ratio IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:26634245 150463162 CV1276185 NM_002422.5(MMP3):c.935+132A>T variant EFO:GO:0097366 response to bronchodilator IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:26634245 150463505 CV1253813 NC_000022.11:g.41833088G>C variant EFO:0004995 lean body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 150463589 CV1214807 NM_021098.3(CACNA1H):c.2790-99C>G variant EFO:0008306 tryptase beta-2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 150463617 CV1214811 NM_015512.5(DNAH1):c.4407+40C>G variant EFO:MONDO:0005090 schizophrenia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26198764 150463656 CV1252553 NM_001098629.3(IRF5):c.-12+1563G>A variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150463709 CV1214824 NM_000789.4(ACE):c.2641+231G>A variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30072576 150463717 CV1263847 NM_001270508.2(TNFAIP3):c.987-152G>T variant EFO:0007988 obsolete_myeloid white cell count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150463797 CV1263858 NM_001146079.2(CLDN14):c.-81-184A>G variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150463797 CV1263858 NM_001146079.2(CLDN14):c.-81-184A>G variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150463797 CV1263858 NM_001146079.2(CLDN14):c.-81-184A>G variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35964923 150463797 CV1263858 NM_001146079.2(CLDN14):c.-81-184A>G variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31015462 150463797 CV1263858 NM_001146079.2(CLDN14):c.-81-184A>G variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150463854 CV1273211 NM_004341.5(CAD):c.6660C>T (p.Thr2220=) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35884923 150463943 CV1276300 NM_016239.4(MYO15A):c.9156+132G>A variant EFO:0004193 basal cell carcinoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33549134 150464042 CV1214872 NM_032856.5(WDR73):c.746G>A (p.Arg249His) variant EFO:0007869 wellbeing measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27089181 150464068 CV1273244 NM_003995.4(NPR2):c.2713-172C>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150464096 CV1273249 NM_000254.3(MTR):c.2775+157G>T variant EFO:0004578 homocysteine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23824729 150464129 CV1252625 NM_032551.5(KISS1R):c.245-34G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37106081 150464131 CV1214887 NM_007315.4(STAT1):c.1728-103T>C variant EFO:0004344 birth weight IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31043758 150464175 CV1273262 NC_000009.12:g.37034672C>T variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 150464214 CV1276345 NM_175607.3(CNTN4):c.*137G>C variant EFO:0020287 contactin-4 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34648354 150464220 CV1273268 NM_000541.5(SAG):c.181+252C>T variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150464243 CV1214906 NM_005538.4(INHBC):c.965G>A (p.Arg322Gln) variant EFO:0004274 gout IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33832965 150464243 CV1214906 NM_005538.4(INHBC):c.965G>A (p.Arg322Gln) variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150464243 CV1214906 NM_005538.4(INHBC):c.965G>A (p.Arg322Gln) variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150464243 CV1214906 NM_005538.4(INHBC):c.965G>A (p.Arg322Gln) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 150464243 CV1214906 NM_005538.4(INHBC):c.965G>A (p.Arg322Gln) variant EFO:0004761 uric acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150464243 CV1214906 NM_005538.4(INHBC):c.965G>A (p.Arg322Gln) variant EFO:0005091 monocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150464243 CV1214906 NM_005538.4(INHBC):c.965G>A (p.Arg322Gln) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 150464243 CV1214906 NM_005538.4(INHBC):c.965G>A (p.Arg322Gln) variant EFO:0020946 phospholipids:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150464243 CV1214906 NM_005538.4(INHBC):c.965G>A (p.Arg322Gln) variant EFO:0022158 triglycerides in small HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150464243 CV1214906 NM_005538.4(INHBC):c.965G>A (p.Arg322Gln) variant EFO:0022237 cholesterol to total lipids in medium HDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150464243 CV1214906 NM_005538.4(INHBC):c.965G>A (p.Arg322Gln) variant EFO:0022248 cholesteryl esters to total lipids in large HDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150464243 CV1214906 NM_005538.4(INHBC):c.965G>A (p.Arg322Gln) variant EFO:0022251 cholesteryl esters to total lipids in medium HDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150464243 CV1214906 NM_005538.4(INHBC):c.965G>A (p.Arg322Gln) variant EFO:0022330 triglycerides to total lipids in large HDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150464243 CV1214906 NM_005538.4(INHBC):c.965G>A (p.Arg322Gln) variant EFO:0022333 triglycerides to total lipids in medium HDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150464243 CV1214906 NM_005538.4(INHBC):c.965G>A (p.Arg322Gln) variant EFO:0022336 triglycerides to total lipids in small HDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150464243 CV1214906 NM_005538.4(INHBC):c.965G>A (p.Arg322Gln) variant EFO:0022339 triglycerides to total lipids in very large HDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150464388 CV1241278 NM_006598.3(SLC12A7):c.220-91G>A variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 150464388 CV1241278 NM_006598.3(SLC12A7):c.220-91G>A variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150464450 CV1214950 NM_002332.3(LRP1):c.10595-220C>T variant EFO:0004531 urate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150464450 CV1214950 NM_002332.3(LRP1):c.10595-220C>T variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150464450 CV1214950 NM_002332.3(LRP1):c.10595-220C>T variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150464450 CV1214950 NM_002332.3(LRP1):c.10595-220C>T variant EFO:0004617 cystatin C measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150464514 CV1241309 NM_000078.3(CETP):c.528-56G>A variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150464514 CV1241309 NM_000078.3(CETP):c.528-56G>A variant EFO:0008594 obsolete_vldl particle size measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150464514 CV1241309 NM_000078.3(CETP):c.528-56G>A variant EFO:0022155 triglycerides in medium VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150464514 CV1241309 NM_000078.3(CETP):c.528-56G>A variant EFO:0022260 concentration of chylomicrons and extremely large VLDL particles measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150464514 CV1241309 NM_000078.3(CETP):c.528-56G>A variant EFO:0022306 total lipids in chylomicrons and extremely large VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150464514 CV1241309 NM_000078.3(CETP):c.528-56G>A variant EFO:0022325 triglycerides in very large VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150464514 CV1241309 NM_000078.3(CETP):c.528-56G>A variant EFO:0022326 triglycerides in VLDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150464544 CV1276417 NM_001963.6(EGF):c.737+243A>G variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 150464618 CV1252728 NM_016335.6(PRODH):c.1251+125T>C variant EFO:0004309 platelet count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150464618 CV1252728 NM_016335.6(PRODH):c.1251+125T>C variant EFO:0009773 proline measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33414548 150464624 CV1276436 NM_181507.2(HPS5):c.825-284G>C variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:30072576 150464634 CV1215295 NM_000089.4(COL1A2):c.595-125A>G variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31761296 150464727 CV1241364 NM_015268.4(DNAJC13):c.3182+28T>A variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 150464727 CV1241364 NM_015268.4(DNAJC13):c.3182+28T>A variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150464795 CV1215332 NM_001481.3(GAS8):c.1012-183T>C variant EFO:MONDO:0004992 cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32887889 150464884 CV1215350 NM_001395656.1(ROBO2):c.3566+120G>A variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30239722 150464891 CV1252789 NM_000302.4(PLOD1):c.1585-218A>G variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150465133 CV1268559 NM_032607.3(CREB3L3):c.576+94A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150465231 CV1201042 NM_001194998.2(CEP152):c.1413+244C>G variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32778093 150465257 CV1277209 NM_002160.4(TNC):c.3197G>A (p.Arg1066His) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34648354 150465257 CV1277209 NM_002160.4(TNC):c.3197G>A (p.Arg1066His) variant EFO:0008296 tenascin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36168886 150465257 CV1277209 NM_002160.4(TNC):c.3197G>A (p.Arg1066His) variant EFO:0801622 GDP-fucose protein O-fucosyltransferase 2 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29875488 150465257 CV1277209 NM_002160.4(TNC):c.3197G>A (p.Arg1066His) variant EFO:0801928 prolargin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29875488 150465257 CV1277209 NM_002160.4(TNC):c.3197G>A (p.Arg1066His) variant EFO:0801942 protein eva-1 homolog C measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29875488 150465257 CV1277209 NM_002160.4(TNC):c.3197G>A (p.Arg1066His) variant EFO:OBA:2041459 level of chymotrypsin-like elastase family member 1 in blood serum IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:35870639 150465264 CV1277210 NM_004557.4(NOTCH4):c.3119-24A>G variant EFO:0001365 age-related macular degeneration IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:22694956 150465364 CV1218007 NM_080732.4(EGLN2):c.-234-504A>G variant EFO:0006525 cigarettes per day measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 150465478 CV1252888 NM_000128.4(F11):c.56-282T>C variant EFO:0004286 venous thromboembolism IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31420334 150465572 CV1218043 NM_001110.4(ADAM10):c.1177-281A>G variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 150465615 CV1255062 NC_000017.11:g.4949168C>T variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150465841 CV1255100 NM_001080477.4(TENM3):c.*58A>G variant EFO:0010650 creativity measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38335777 150465870 CV1268681 NM_001376571.1(MADD):c.2251G>A (p.Val751Met) variant EFO:0004467 insulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23263489 150465870 CV1268681 NM_001376571.1(MADD):c.2251G>A (p.Val751Met) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31566214 150466009 CV1218117 NM_000486.6(AQP2):c.526-54T>C variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39537608 150466009 CV1218117 NM_000486.6(AQP2):c.526-54T>C variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39537608 150466013 CV1240337 NM_005540.3(INPP5B):c.532+216G>A variant EFO:0000612 myocardial infarction IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33532862 150466150 CV1240359 NM_002250.3(KCNN4):c.256-10C>T variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150466150 CV1240359 NM_002250.3(KCNN4):c.256-10C>T variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150466150 CV1240359 NM_002250.3(KCNN4):c.256-10C>T variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150466150 CV1240359 NM_002250.3(KCNN4):c.256-10C>T variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150466150 CV1240359 NM_002250.3(KCNN4):c.256-10C>T variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150466155 CV1268727 NM_001128840.3(CACNA1D):c.2918+32T>C variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36581621 150466160 CV1277358 NM_000718.4(CACNA1B):c.3287-151C>T variant EFO:0004881 asparaginase hypersensitivity IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:25987655 150466185 CV1268732 NM_001103146.3(GIGYF2):c.713-172A>G variant EFO:0004570 bilirubin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150466221 CV1268738 NM_019076.5(UGT1A8):c.856-5794C>T variant EFO:0800079 p-cresol glucuronide measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 150466242 CV1255707 NM_002336.3(LRP6):c.-50C>A variant EFO:0004784 self reported educational attainment IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30038396 150466242 CV1255707 NM_002336.3(LRP6):c.-50C>A variant EFO:0011015 educational attainment IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:35361970 150466267 CV1240379 NM_000795.4(DRD2):c.286-208G>A variant EFO:0005271 obsolete_sleep duration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37384397 150466323 CV1240389 NM_172250.3(MMAA):c.970-216A>T variant EFO:0004620 vitamin B12 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39414775 150466332 CV1277387 NM_006598.3(SLC12A7):c.2848-196G>A variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150466423 CV1268770 NM_002293.4(LAMC1):c.4315-65G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150466431 CV1240408 NM_002303.6(LEPR):c.1604-270A>G variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 150466492 CV1268782 NM_001077415.3(CRELD1):c.1048+258T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150466581 CV1268797 NM_002334.4(LRP4):c.3700-21C>G variant EFO:0003923 obsolete_bone density IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29304378 150466647 CV1218224 NM_005027.4(PIK3R2):c.1980-81A>G variant EFO:0010130 health study participation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31263887 150466654 CV1255775 NM_002905.5(RDH5):c.-32-168G>C variant EFO:HP:0000539 Abnormality of refraction IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23396134 150466654 CV1255775 NM_002905.5(RDH5):c.-32-168G>C variant EFO:MONDO:0004892 refractive error IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29808027 150466683 CV1240450 NM_001982.4(ERBB3):c.875-147T>G variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30617275 150466705 CV1218234 NM_001193375.3(NDUFA11):c.314-1283C>T variant EFO:0008003 heart rate variability measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28613276 150466742 CV1268824 NM_005378.6(MYCN):c.*250C>T variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150466924 CV1277485 NM_001128148.3(TFRC):c.-23-28C>T variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888494 150466924 CV1277485 NM_001128148.3(TFRC):c.-23-28C>T variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150466924 CV1277485 NM_001128148.3(TFRC):c.-23-28C>T variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888494 150467005 CV1268868 NM_003839.4(TNFRSF11A):c.284-120T>G variant EFO:MONDO:0004979 asthma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32296059 150467073 CV1268880 NM_000375.3(UROS):c.394+150A>G variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30072576 150467102 CV1268885 NM_003972.3(BTAF1):c.5235+49A>C variant EFO:0006525 cigarettes per day measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30643251 150467151 CV1218310 NM_020442.6(VARS2):c.671+225G>A variant EFO:0004908 testosterone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34321204 150467408 CV1220011 NM_015268.4(DNAJC13):c.69-141A>T variant EFO:0005689 non-high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 150467430 CV1240878 NM_015488.5(PNKD):c.237-16605C>T variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34648354 150467430 CV1240878 NM_015488.5(PNKD):c.237-16605C>T variant EFO:0005091 monocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150467437 CV1255906 NM_005546.4(ITK):c.648-291G>T variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150467456 CV1240882 NM_001680.5(FXYD2):c.65-60A>G variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32541925 150467484 CV1240887 NM_025233.7(COASY):c.915+42C>T variant EFO:0009924 Drugs used in diabetes use measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150467741 CV1277624 NM_001127198.5(TMC6):c.272-113A>G variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28887542 150467865 CV1269303 NM_000821.7(GGCX):c.44-67A>T variant EFO:0001645 coronary artery disease IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28714975 150467865 CV1269303 NM_000821.7(GGCX):c.44-67A>T variant EFO:MONDO:0008315 prostate cancer IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38538606 150468050 CV1220118 NM_014359.4(OPTC):c.231+32T>C variant EFO:0021874 ankyrin-2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 150468357 CV1257042 NM_005702.4(ERAL1):c.*218C>T variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150468357 CV1257042 NM_005702.4(ERAL1):c.*218C>T variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 150468357 CV1257042 NM_005702.4(ERAL1):c.*218C>T variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150468357 CV1257042 NM_005702.4(ERAL1):c.*218C>T variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150468446 CV1218914 NM_015103.3(PLXND1):c.4234T>G (p.Leu1412Val) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150468446 CV1218914 NM_015103.3(PLXND1):c.4234T>G (p.Leu1412Val) variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150468513 CV1218924 NM_033419.5(PGAP3):c.181+228C>T variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333282 150468519 CV1218925 NM_001267052.2(UNC45B):c.1958+256G>C variant EFO:0000717 systemic scleroderma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30247649 150468562 CV1267952 NM_000979.4(RPL18):c.3+150A>G variant EFO:0021869 protein FAM3D measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 150468591 CV1243021 NM_001205293.3(CACNA1E):c.4974-278A>G variant EFO:MONDO:0002009 major depressive disorder IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30718901 150468837 CV1267994 NM_024119.3(DHX58):c.1274A>G (p.Gln425Arg) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29083408 150468837 CV1267994 NM_024119.3(DHX58):c.1274A>G (p.Gln425Arg) variant EFO:0005666 obsolete_thyroid peroxidase antibody measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39266554 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0007577 obsolete_blood cobalt measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0007583 obsolete_blood nickel measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0007886 DDT metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0008360 environmental exposure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0022052 2,4,5-trichlorophenol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0022053 4,6-dinitro-o-cresol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0022054 aldrin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0022055 azinphos methyl measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0022056 cadmium chloride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0022057 chlorpyrifos measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0022058 dibutyl phthalate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0022059 diazinon measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0022060 dicofol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0022061 dieldrin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0022062 disulfoton measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0022063 endosulfan measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0022064 endrin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0022065 ethion measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0022066 heptachlor measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0022067 heptachlor epoxide measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0022068 mercuric chloride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0022069 methoxychlor measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0022070 parathion measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0022071 pentachlorophenol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150468909 CV1249007 NM_002664.3(PLEK):c.291G>T (p.Lys97Asn) variant EFO:0022072 potassium chromate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36006120 150469068 CV1249034 NM_022143.5(LRRC4):c.837T>A (p.Ser279=) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36581621 150469091 CV1243100 NM_014231.5(VAMP1):c.*1445A>G variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30072576 150469091 CV1243100 NM_014231.5(VAMP1):c.*1445A>G variant EFO:0802119 tapasin-related protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29875488 150469188 CV1249054 NM_000125.4(ESR1):c.452+89C>T variant EFO:0004338 body weight IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150469227 CV1268061 NM_000497.4(CYP11B1):c.799+140C>T variant EFO:0007972 androstenedione measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31169883 150469282 CV1259632 NM_000208.4(INSR):c.2231+34G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36224396 150469282 CV1259632 NM_000208.4(INSR):c.2231+34G>A variant EFO:0004847 age at onset IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29808027 150469282 CV1259632 NM_000208.4(INSR):c.2231+34G>A variant EFO:HP:0000545 Myopia IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29808027 150469549 CV1249113 NM_000301.5(PLG):c.1097-64A>G variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 150469562 CV1268119 NM_001040694.2(INCENP):c.2205-125A>G variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34321204 150469798 CV1247881 NM_002225.5(IVD):c.234+98C>T variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:21886157 150469798 CV1247881 NM_002225.5(IVD):c.234+98C>T variant EFO:0020019 isovalerylcarnitine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 150469798 CV1247881 NM_002225.5(IVD):c.234+98C>T variant EFO:0800024 isovalerylcarnitine (C5) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 150469837 CV1219140 NM_001318104.2(GAL3ST1):c.85G>A (p.Val29Met) variant EFO:0004346 neuroimaging measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38811844 150469837 CV1219140 NM_001318104.2(GAL3ST1):c.85G>A (p.Val29Met) variant EFO:0004641 white matter integrity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33875891 150469837 CV1219140 NM_001318104.2(GAL3ST1):c.85G>A (p.Val29Met) variant EFO:0006930 obsolete_brain volume measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33875891 150469837 CV1219140 NM_001318104.2(GAL3ST1):c.85G>A (p.Val29Met) variant EFO:0007630 glycerophospholipid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150469837 CV1219140 NM_001318104.2(GAL3ST1):c.85G>A (p.Val29Met) variant EFO:0008399 mean fractional anisotropy measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33875891 150469837 CV1219140 NM_001318104.2(GAL3ST1):c.85G>A (p.Val29Met) variant EFO:0010222 ceramide measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 150469921 CV1268177 NM_030632.3(ASXL3):c.595+334G>A variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37106081 150469956 CV1268183 NM_000078.3(CETP):c.1146+212T>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150470027 CV1259757 NM_003227.4(TFR2):c.1390+211G>A variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 150470027 CV1259757 NM_003227.4(TFR2):c.1390+211G>A variant EFO:0007985 platelet crit IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150470056 CV1247924 NM_001384479.1(AGT):c.-31+1130G>A variant EFO:0004329 alcohol drinking IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29912962 150470056 CV1247924 NM_001384479.1(AGT):c.-31+1130G>A variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29912962 150470065 CV1243264 NM_001394062.1(MACF1):c.358-158G>A variant EFO:0005409 obsolete_fat body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 150470065 CV1243264 NM_001394062.1(MACF1):c.358-158G>A variant EFO:0020946 phospholipids:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150470125 CV1219189 NM_006005.3(WFS1):c.460+145C>G variant EFO:0007629 hemoglobin A1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150470297 CV1243301 NM_006030.4(CACNA2D2):c.1260+22G>A variant EFO:0004698 insomnia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35835914 150470353 CV1247975 NM_032683.3(MPV17L2):c.214A>G (p.Met72Val) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150470353 CV1247975 NM_032683.3(MPV17L2):c.214A>G (p.Met72Val) variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29083408 150470353 CV1247975 NM_032683.3(MPV17L2):c.214A>G (p.Met72Val) variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30778226 150470447 CV1269846 NC_000010.11:g.100186276G>A variant EFO:0000708 squamous cell lung carcinoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28604730 150470465 CV1258591 NM_001455.4(FOXO3):c.621+25486G>T variant EFO:0007984 platelet component distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150470488 CV1269854 NM_001150.3(ANPEP):c.932C>T (p.Ala311Val) variant EFO:0004210 gallstones IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34651315 150470509 CV1248007 NM_000163.5(GHR):c.876-162A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150470542 CV1269865 NM_001670.3(ARVCF):c.*12+70C>T variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33097823 150470608 CV1248027 NM_002122.5(HLA-DQA1):c.101G>A (p.Cys34Tyr) variant EFO:0000341 chronic obstructive pulmonary disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33909500 150470628 CV1258623 NM_182914.3(SYNE2):c.19860+79A>G variant EFO:0003761 obsolete_unipolar depression IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31926635 150470628 CV1258623 NM_182914.3(SYNE2):c.19860+79A>G variant EFO:MONDO:0002009 major depressive disorder IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31926635 150470628 CV1258623 NM_182914.3(SYNE2):c.19860+79A>G variant EFO:MONDO:0004985 bipolar disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31926635 150470676 CV1258635 NM_002141.5(HOXA4):c.*254T>C variant EFO:0004209 hypospadias IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25108383 150470699 CV1269901 NM_017868.4(TTC12):c.1816+30T>C variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36581621 150470734 CV1258649 NM_001127453.2(GSDME):c.1257+251C>T variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39537608 150470753 CV1258654 NM_003808.4(TNFSF13):c.287A>G (p.Asn96Ser) variant EFO:0004535 obsolete_serum albumin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150470753 CV1258654 NM_003808.4(TNFSF13):c.287A>G (p.Asn96Ser) variant EFO:0004536 total blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150470753 CV1258654 NM_003808.4(TNFSF13):c.287A>G (p.Asn96Ser) variant EFO:0004568 obsolete_serum non-albumin protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150470753 CV1258654 NM_003808.4(TNFSF13):c.287A>G (p.Asn96Ser) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150470753 CV1258654 NM_003808.4(TNFSF13):c.287A>G (p.Asn96Ser) variant EFO:0004627 IGF-1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150470753 CV1258654 NM_003808.4(TNFSF13):c.287A>G (p.Asn96Ser) variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150470753 CV1258654 NM_003808.4(TNFSF13):c.287A>G (p.Asn96Ser) variant EFO:0004908 testosterone measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150470753 CV1258654 NM_003808.4(TNFSF13):c.287A>G (p.Asn96Ser) variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30643251 150470753 CV1258654 NM_003808.4(TNFSF13):c.287A>G (p.Asn96Ser) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150470753 CV1258654 NM_003808.4(TNFSF13):c.287A>G (p.Asn96Ser) variant EFO:0010092 bitter alcoholic beverage consumption measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31046077 150470875 CV1248095 NM_000552.5(VWF):c.2282-121T>C variant EFO:0004286 venous thromboembolism IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31420334 150471078 CV1248146 NM_017947.4(MOCOS):c.-24G>A variant EFO:0008343 sex interaction measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34099189 150471078 CV1248146 NM_017947.4(MOCOS):c.-24G>A variant EFO:MONDO:0005090 schizophrenia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34099189 150471098 CV1270003 NM_198253.3(TERT):c.1769+130C>T variant EFO:0000305 breast carcinoma IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27197191 150471098 CV1270003 NM_198253.3(TERT):c.1769+130C>T variant EFO:0000571 lung adenocarcinoma IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27197191 150471098 CV1270003 NM_198253.3(TERT):c.1769+130C>T variant EFO:0000708 squamous cell lung carcinoma IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27197191 150471098 CV1270003 NM_198253.3(TERT):c.1769+130C>T variant EFO:0001071 lung carcinoma IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27197191 150471098 CV1270003 NM_198253.3(TERT):c.1769+130C>T variant EFO:0001075 ovarian carcinoma IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27197191 150471098 CV1270003 NM_198253.3(TERT):c.1769+130C>T variant EFO:0001663 prostate carcinoma IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27197191 150471098 CV1270003 NM_198253.3(TERT):c.1769+130C>T variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150471098 CV1270003 NM_198253.3(TERT):c.1769+130C>T variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150471098 CV1270003 NM_198253.3(TERT):c.1769+130C>T variant EFO:1000650 estrogen-receptor negative breast cancer IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27197191 150471098 CV1270003 NM_198253.3(TERT):c.1769+130C>T variant EFO:1001515 ovarian endometrioid carcinoma IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27197191 150471098 CV1270003 NM_198253.3(TERT):c.1769+130C>T variant EFO:1001516 ovarian serous carcinoma IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27197191 150471098 CV1270003 NM_198253.3(TERT):c.1769+130C>T variant EFO:MONDO:0005575 colorectal cancer IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27197191 150471098 CV1270003 NM_198253.3(TERT):c.1769+130C>T variant EFO:MONDO:0007915 systemic lupus erythematosus IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33272962 150471169 CV1270020 NM_001371533.1(FUT8):c.1410+78A>G variant EFO:0004999 N-glycan measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:21908519 150471251 CV1248188 NM_130806.5(RXFP2):c.425+186T>G variant EFO:HP:0000023 Inguinal hernia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150471272 CV1248192 NM_001384763.1(SLC22A31):c.1091C>T (p.Pro364Leu) variant EFO:MONDO:0100096 COVID-19 IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37198478 150471393 CV1248217 NM_001375567.1(FOCAD):c.2853-41A>G variant EFO:0004873 cytokine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33104735 150471418 CV1270072 NM_000208.4(INSR):c.1861+151A>G variant EFO:0009167 obsolete_response to warfarin IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39163621 150471484 CV1248234 NC_000007.14:g.44189469C>T variant EFO:0004465 obsolete_fasting blood glucose measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33842983 150471484 CV1248234 NC_000007.14:g.44189469C>T variant EFO:0004468 glucose measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150471484 CV1248234 NC_000007.14:g.44189469C>T variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:24244560 150471597 CV1270108 NM_001670.3(ARVCF):c.211-82G>A variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:30578418 150471628 CV1253388 NM_005857.5(ZMPSTE24):c.1204-124T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150471638 CV1253390 NM_001079843.3(CASZ1):c.-233-4663G>A variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31761296 150471638 CV1253390 NM_001079843.3(CASZ1):c.-233-4663G>A variant EFO:HP:0002619 Varicose veins IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30566020 150471649 CV1281036 NM_000228.3(LAMB3):c.2777C>G (p.Ala926Gly) variant EFO:0007770 post-operative fentanyl consumption measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26566055 150471859 CV1259199 NM_021870.3(FGG):c.*291C>T variant EFO:0004286 venous thromboembolism IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31420334 150471904 CV1270169 NM_018706.7(DHTKD1):c.2403-125C>T variant EFO:0006794 obsolete_cerebrospinal fluid biomarker measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528826 150471904 CV1270169 NM_018706.7(DHTKD1):c.2403-125C>T variant EFO:0800209 2-hydroxyadipate measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528826 150472017 CV1236273 NM_001136191.3(KANK2):c.*160G>A variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 150472078 CV1252187 NM_004360.5(CDH1):c.2296-243T>C variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150472078 CV1252187 NM_004360.5(CDH1):c.2296-243T>C variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150472131 CV1259243 NC_000004.12:g.986676A>G variant EFO:0003063 polymyositis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26362759 150472236 CV1270222 NM_152644.3(FAM24B):c.5C>T (p.Pro2Leu) variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:29083408 150472289 CV1217156 NM_001378030.1(CCDC78):c.1054-62G>A variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150472333 CV1236322 NM_032608.7(MYO18B):c.131G>A (p.Gly44Glu) variant EFO:0008205 left ventricular structural measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38036550 150472334 CV1259276 NM_004426.3(PHC1):c.93T>A (p.Leu31=) variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150472484 CV1252252 NM_152468.5(TMC8):c.-239G>C variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150472581 CV1252268 NC_000019.10:g.1106846C>T variant EFO:0010176 keratinocyte carcinoma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31174203 150472584 CV1217204 NM_018446.4(GLT8D1):c.*57G>A variant EFO:0004616 osteoarthritis, knee IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30664745 150472584 CV1217204 NM_018446.4(GLT8D1):c.*57G>A variant EFO:0004874 memory performance IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35974141 150472584 CV1217204 NM_018446.4(GLT8D1):c.*57G>A variant EFO:1000786 osteoarthritis, hip IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30664745 150472588 CV1217205 NM_016363.5(GP6):c.35-297G>T variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150472601 CV1252271 NM_001367943.1(TCF7L2):c.450+90A>G variant EFO:MONDO:0005575 colorectal cancer IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31089142 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0004735 serum alanine aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333282 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0005058 tyrosine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0005110 fatty acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0007630 glycerophospholipid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0007761 docosahexaenoic acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0010118 sphingomyelin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0010223 diglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0010224 lysophosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0010225 lysophosphatidylethanolamine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0010226 phosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0010228 phosphatidylethanolamine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0010230 phosphatidylinositol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0010340 cholesteryl ester 14:0 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0010341 cholesteryl ester 16:0 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0010345 cholesteryl ester 18:2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0010346 cholesteryl ester 18:3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0010347 cholesteryl ester 20:3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0010348 cholesteryl ester 20:4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0010349 cholesteryl ester 20:5 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0010350 cholesteryl ester 22:6 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0010351 cholesteryl ester measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0010355 diacylglycerol 36:2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0020047 phosphatidate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0020049 phosphatidylserines measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0020062 diacylglycerol 36:3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0020065 diacylglycerol 38:3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0020066 diacylglycerol 38:4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0020067 diacylglycerol 38:5 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0021075 stearidonate 18:4n3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0021443 cholesteryl ester 22:4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35120996 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0021452 lysophosphatidylcholine 17:0 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0022103 Palmitoyl-arachidonoyl-glycerol (16:0/20:4) [2] measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37253714 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0800298 1-docosapentaenoyl-GPC (22:5n3) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0800319 1-meadoyl-GPC (20:3n9) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:0800536 nisinate (24:6n3) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36635386 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:OBA:2045084 level of Phosphatidylcholine (16:1_20:4) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36193934 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:OBA:2045123 level of Phosphatidylcholine (O-16:1_20:4) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36193934 150472655 CV1272525 NM_001127392.3(MYRF):c.3153T>C (p.Ser1051=) variant EFO:OBA:2045132 level of Phosphatidylcholine (O-18:2_16:0) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36193934 150472820 CV1252306 NM_002224.4(ITPR3):c.3207G>A (p.Pro1069=) variant EFO:0004286 venous thromboembolism IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28203683 150472838 CV1272555 NM_007109.3(TCF19):c.325C>T (p.Pro109Ser) variant EFO:0000341 chronic obstructive pulmonary disease IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33909500 150472838 CV1272555 NM_007109.3(TCF19):c.325C>T (p.Pro109Ser) variant EFO:0004254 membranous glomerulonephritis IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:21323541 150472838 CV1272555 NM_007109.3(TCF19):c.325C>T (p.Pro109Ser) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36224396 150472935 CV1252325 NM_207517.3(ADAMTSL3):c.1616-241T>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:18391952 150472961 CV1252329 NM_020812.4(DOCK6):c.2718+84T>C variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30718733 150472961 CV1252329 NM_020812.4(DOCK6):c.2718+84T>C variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:35884923 150473017 CV1259395 NM_002633.3(PGM1):c.1145-299T>C variant EFO:MONDO:0005147 type 1 diabetes mellitus IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34012112 150473097 CV1252351 NM_015488.5(PNKD):c.237-16808G>A variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 150473097 CV1252351 NM_015488.5(PNKD):c.237-16808G>A variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 150473115 CV1217575 NM_032793.5(MFSD2A):c.1208+183A>G variant EFO:0004462 PR interval IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23534349 150473119 CV1252355 NM_000388.4(CASR):c.1608+52G>A variant EFO:MONDO:0004979 asthma IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150473143 CV1252359 NC_000013.11:g.113122633T>C variant EFO:0008390 prothrombin time measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35121771 150473158 CV1262855 NM_173648.4(CCDC141):c.4548C>T (p.Val1516=) variant EFO:0008111 diet measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31991592 150473158 CV1262855 NM_173648.4(CCDC141):c.4548C>T (p.Val1516=) variant EFO:0010119 omega-3 polyunsaturated fatty acid measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31991592 150473348 CV1234263 NM_003025.4(SH3GL1):c.187+279T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36224396 150473348 CV1234263 NM_003025.4(SH3GL1):c.187+279T>C variant EFO:0004348 hematocrit IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888494 150473348 CV1234263 NM_003025.4(SH3GL1):c.187+279T>C variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:35964923 150473348 CV1234263 NM_003025.4(SH3GL1):c.187+279T>C variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 150473348 CV1234263 NM_003025.4(SH3GL1):c.187+279T>C variant EFO:0005047 obsolete_erythrocyte measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37596262 150473348 CV1234263 NM_003025.4(SH3GL1):c.187+279T>C variant EFO:0803545 immature reticulocyte measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37596262 150473564 CV1217650 NM_000407.5(GP1BB):c.*107C>T variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 150473564 CV1217650 NM_000407.5(GP1BB):c.*107C>T variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 150473564 CV1217650 NM_000407.5(GP1BB):c.*107C>T variant EFO:0007984 platelet component distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 150473569 CV1281524 NM_213647.3(FGFR4):c.28G>A (p.Val10Ile) variant EFO:0004236 focal segmental glomerulosclerosis IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36623684 150473569 CV1281524 NM_213647.3(FGFR4):c.28G>A (p.Val10Ile) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36224396 150473569 CV1281524 NM_213647.3(FGFR4):c.28G>A (p.Val10Ile) variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30778226 150473569 CV1281524 NM_213647.3(FGFR4):c.28G>A (p.Val10Ile) variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34021172 150473569 CV1281524 NM_213647.3(FGFR4):c.28G>A (p.Val10Ile) variant EFO:0008039 BMI-adjusted hip circumference IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34021172 150473569 CV1281524 NM_213647.3(FGFR4):c.28G>A (p.Val10Ile) variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150473606 CV1272198 NM_001376013.1(EPB41):c.1125-249T>A variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150473698 CV1281565 NM_000626.4(CD79B):c.118+258G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150473845 CV1217699 NM_016239.4(MYO15A):c.4321-256A>G variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 150474058 CV1252507 NM_015374.3(SUN2):c.813+89C>T variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150474109 CV1217744 NM_001349338.3(FOXP1):c.1722+137A>G variant EFO:MONDO:0005351 anorexia nervosa IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31308545 150474177 CV1234405 NM_016642.4(SPTBN5):c.4679G>A (p.Arg1560His) variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30778226 150474193 CV1252529 NM_001386140.1(MTTP):c.250-90T>C variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31151762 150474587 CV1263382 NM_001127198.5(TMC6):c.1083-57C>G variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150474587 CV1263382 NM_001127198.5(TMC6):c.1083-57C>G variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150474606 CV1234476 NM_182920.2(ADAMTS9):c.5521+204T>C variant EFO:MONDO:0004979 asthma IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:26620591 150474624 CV1272362 NM_001283009.2(RTEL1):c.2557-199C>T variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31761296 150474675 CV1217837 NM_000064.4(C3):c.3391-33G>A variant EFO:0004983 complement C3 measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:23028341 150474998 CV1252944 NM_001379500.1(COL18A1):c.3250-176A>G variant EFO:0004840 cortical thickness IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34910505 150475003 CV1263441 NM_000443.4(ABCB4):c.834-66G>T variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30275531 150475003 CV1263441 NM_000443.4(ABCB4):c.834-66G>T variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30275531 150475055 CV1271138 NM_001395413.1(POR):c.1390-120G>A variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37106081 150475055 CV1271138 NM_001395413.1(POR):c.1390-120G>A variant EFO:0004725 metabolite measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 150475055 CV1271138 NM_001395413.1(POR):c.1390-120G>A variant EFO:0007929 triglyceride:HDL cholesterol ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38200128 150475091 CV1252957 NM_015271.5(TRIM2):c.31-261G>A variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 150475091 CV1252957 NM_015271.5(TRIM2):c.31-261G>A variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 150475091 CV1252957 NM_015271.5(TRIM2):c.31-261G>A variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35192695 150475091 CV1252957 NM_015271.5(TRIM2):c.31-261G>A variant EFO:0005689 non-high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 150475142 CV1278998 NM_001349338.3(FOXP1):c.974+269A>T variant EFO:0006527 smoking status measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30643251 150475142 CV1278998 NM_001349338.3(FOXP1):c.974+269A>T variant EFO:0008579 risk-taking behaviour IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:30643258 150475245 CV1271165 NM_000237.3(LPL):c.776-172G>A variant EFO:0001645 coronary artery disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29212778 150475402 CV1263497 NM_016008.4(DYNC2LI1):c.162-19A>G variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150475402 CV1263497 NM_016008.4(DYNC2LI1):c.162-19A>G variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150475427 CV1217946 NM_001367561.1(DOCK7):c.1801-626T>G variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:24386095 150475427 CV1217946 NM_001367561.1(DOCK7):c.1801-626T>G variant EFO:0010230 phosphatidylinositol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34503513 150475436 CV1271192 NM_013372.7(GREM1):c.*40C>A variant EFO:0004710 pelvic organ prolapse IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35739095 150475500 CV1263511 NM_000138.5(FBN1):c.6496+128A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150475642 CV1263531 NM_000301.5(PLG):c.787+195G>A variant EFO:0006925 lipoprotein A measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:21900290 150475725 CV1239779 NM_003361.4(UMOD):c.1182+167G>A variant EFO:0005663 urinary uromodulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35228297 150475746 CV1239782 NM_005505.5(SCARB1):c.403G>A (p.Val135Ile) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150475769 CV1216714 NM_003998.4(NFKB1):c.1210+268A>G variant EFO:MONDO:0004867 upper respiratory tract disorder IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36653354 150475769 CV1216714 NM_003998.4(NFKB1):c.1210+268A>G variant EFO:MONDO:0020592 disorder of pharynx IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36653354 150476039 CV1279177 NM_000352.6(ABCC8):c.148+119C>T variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33097823 150476039 CV1279177 NM_000352.6(ABCC8):c.148+119C>T variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 150476039 CV1279177 NM_000352.6(ABCC8):c.148+119C>T variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 150476039 CV1279177 NM_000352.6(ABCC8):c.148+119C>T variant EFO:0007885 JT interval IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36050321 150476075 CV1271282 NM_001136017.3(CCND3):c.-45-16836C>T variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:28017375 150476075 CV1271282 NM_001136017.3(CCND3):c.-45-16836C>T variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150476075 CV1271282 NM_001136017.3(CCND3):c.-45-16836C>T variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:19862010 150476075 CV1271282 NM_001136017.3(CCND3):c.-45-16836C>T variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39414775 150476075 CV1271282 NM_001136017.3(CCND3):c.-45-16836C>T variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150476075 CV1271282 NM_001136017.3(CCND3):c.-45-16836C>T variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150476075 CV1271282 NM_001136017.3(CCND3):c.-45-16836C>T variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28957414 150476075 CV1271282 NM_001136017.3(CCND3):c.-45-16836C>T variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888494 150476075 CV1271282 NM_001136017.3(CCND3):c.-45-16836C>T variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150476125 CV1216766 NM_017947.4(MOCOS):c.233-47G>A variant EFO:0800700 X-12026 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 150476218 CV1271303 NM_022124.6(CDH23):c.8178+165T>A variant EFO:0004625 progranulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29186428 150476256 CV1263618 NM_207396.3(RNF207):c.1718A>G (p.Asn573Ser) variant EFO:0004682 QT interval IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29874175 150476291 CV1263623 NM_002160.4(TNC):c.5126-47A>G variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 150476416 CV1263640 NM_001670.3(ARVCF):c.2641+62C>G variant EFO:0004309 platelet count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150476494 CV1263651 NM_004727.3(SLC24A1):c.2054-1570C>G variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 150476649 CV1218509 NM_015368.4(PANX1):c.-459C>T variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150476680 CV1218514 NM_005245.4(FAT1):c.3265+124G>A variant EFO:0004462 PR interval IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30046033 150476814 CV1251921 NM_002640.4(SERPINB8):c.477G>A (p.Leu159=) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150476915 CV1251936 NM_021098.3(CACNA1H):c.2604-272C>T variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150476915 CV1251936 NM_021098.3(CACNA1H):c.2604-272C>T variant EFO:0011015 educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35361970 150476966 CV1251944 NM_001122955.4(BSCL2):c.88-459G>A variant EFO:0006527 smoking status measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30643251 150477095 CV1218577 NM_001670.3(ARVCF):c.210+86G>A variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150477095 CV1218577 NM_001670.3(ARVCF):c.210+86G>A variant EFO:0005091 monocyte count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150477141 CV1251969 NM_001386140.1(MTTP):c.2218-235T>C variant EFO:0001060 celiac disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:23936387 150477248 CV1262475 NM_015443.4(KANSL1):c.-90+643G>A variant EFO:0009695 household income IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31844048 150477301 CV1279423 NM_000744.7(CHRNA4):c.-183C>T variant EFO:0007626 emphysema imaging measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:26030696 150477571 CV1218644 NM_003126.4(SPTA1):c.5566-229A>G variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150477644 CV1272075 NC_000019.10:g.12806286G>C variant EFO:0011015 educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35361970 150477672 CV1252048 NM_020859.4(SHROOM3):c.168+11474G>A variant EFO:0003884 chronic kidney disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:20383146 150477672 CV1252048 NM_020859.4(SHROOM3):c.168+11474G>A variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24777453 150477672 CV1252048 NM_020859.4(SHROOM3):c.168+11474G>A variant EFO:0004518 obsolete_creatinine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:20383146 150477672 CV1252048 NM_020859.4(SHROOM3):c.168+11474G>A variant EFO:0004742 obsolete_renal system quality IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:19430482 150477672 CV1252048 NM_020859.4(SHROOM3):c.168+11474G>A variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26831199 150477697 CV1279499 NM_172351.3(CD46):c.476-107A>C variant EFO:0005091 monocyte count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150477814 CV1252072 NM_001024613.4(FEZF1):c.1069+179G>T variant EFO:0008328 chronotype measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30696823 150477963 CV1272129 NM_153000.5(APCDD1):c.59-13C>T variant EFO:0004704 age at menopause IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34050765 150477994 CV1218712 NM_052874.5(STX1B):c.-163C>A variant EFO:MONDO:0005180 Parkinson disease IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32201043 150478071 CV1250827 NM_030761.5(WNT4):c.589-306T>C variant EFO:0003923 obsolete_bone density IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28743860 150478071 CV1250827 NM_030761.5(WNT4):c.589-306T>C variant EFO:0004995 lean body mass IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28743860 150478177 CV1271014 NM_032974.5(CASP10):c.1416-261T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150478227 CV1281889 NC_000022.11:g.50523425T>C variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 150478239 CV1281894 NM_003060.4(SLC22A5):c.951+108C>T variant EFO:0020942 propionylcarnitine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36357675 150478239 CV1281894 NM_003060.4(SLC22A5):c.951+108C>T variant EFO:0800210 propionylcarnitine (C3) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35347128 150478239 CV1281894 NM_003060.4(SLC22A5):c.951+108C>T variant EFO:0800543 ximenoylcarnitine (C26:1) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37277652 150478871 CV1218862 NM_000186.4(CFH):c.2957-89T>C variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 150479245 CV1239352 NM_002128.7(HMGB1):c.*2262G>A variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36376304 150479245 CV1239352 NM_002128.7(HMGB1):c.*2262G>A variant EFO:0004343 waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30239722 150479373 CV1273456 NM_198204.2(MLX):c.506A>G (p.Gln169Arg) variant EFO:0004307 glucose tolerance test IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39280063 150479373 CV1273456 NM_198204.2(MLX):c.506A>G (p.Gln169Arg) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 150479373 CV1273456 NM_198204.2(MLX):c.506A>G (p.Gln169Arg) variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29632382 150479411 CV1273463 NM_001486.4(GCKR):c.1422+94T>C variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29404214 150479411 CV1273463 NM_001486.4(GCKR):c.1422+94T>C variant EFO:0004535 obsolete_serum albumin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35121771 150479411 CV1273463 NM_001486.4(GCKR):c.1422+94T>C variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37919891 150479414 CV1282267 NM_003238.6(TGFB2):c.932+213A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:35831902 150479414 CV1282267 NM_003238.6(TGFB2):c.932+213A>G variant EFO:0004995 lean body mass IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38538606 150479414 CV1282267 NM_003238.6(TGFB2):c.932+213A>G variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28448500 150479617 CV1273498 NM_001145026.2(PTPRQ):c.6738+255C>A variant EFO:0004346 neuroimaging measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38811844 150479791 CV1219300 NM_001379500.1(COL18A1):c.1896+56G>A variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 150479865 CV1282409 NM_007194.4(CHEK2):c.319+91G>A variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32042192 150479865 CV1282409 NM_007194.4(CHEK2):c.319+91G>A variant EFO:0004908 testosterone measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32042192 150479865 CV1282409 NM_007194.4(CHEK2):c.319+91G>A variant EFO:0005922 esophageal squamous cell carcinoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37673066 150479865 CV1282409 NM_007194.4(CHEK2):c.319+91G>A variant EFO:0006940 obsolete_optic cup area measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:25631615 150479958 CV1258340 NM_012301.4(MAGI2):c.3204-132A>G variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 150479990 CV1282453 NM_024721.5(ZFHX4):c.3213T>C (p.His1071=) variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39537608 150480025 CV1282470 NM_203447.4(DOCK8):c.1045-246T>A variant EFO:0004309 platelet count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 150480025 CV1282470 NM_203447.4(DOCK8):c.1045-246T>A variant EFO:0005036 obsolete_platelet measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37596262 150480033 CV1221890 NM_006401.3(ANP32B):c.54+11A>G variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150480101 CV1239507 NM_000795.4(DRD2):c.533-168T>C variant EFO:0004319 smoking cessation IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30643251 150480101 CV1239507 NM_000795.4(DRD2):c.533-168T>C variant EFO:0006525 cigarettes per day measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30643251 150480316 CV1221946 NM_032383.5(HPS3):c.218-77A>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150480369 CV1258421 NM_006516.4(SLC2A1):c.19-428G>A variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150480369 CV1258421 NM_006516.4(SLC2A1):c.19-428G>A variant EFO:0007993 lymphocyte percentage of leukocytes IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150480376 CV1239565 NM_002838.5(PTPRC):c.298+194A>G variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150480376 CV1239565 NM_002838.5(PTPRC):c.298+194A>G variant EFO:0005090 basophil count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150480376 CV1239565 NM_002838.5(PTPRC):c.298+194A>G variant EFO:0009941 Inhalant adrenergic use measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31015401 150480376 CV1239565 NM_002838.5(PTPRC):c.298+194A>G variant EFO:MONDO:0004979 asthma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34103634 150480376 CV1239565 NM_002838.5(PTPRC):c.298+194A>G variant EFO:MONDO:0005405 childhood onset asthma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150480383 CV1258424 NM_004064.5(CDKN1B):c.*9-222T>C variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 150480383 CV1258424 NM_004064.5(CDKN1B):c.*9-222T>C variant EFO:0004980 appendicular lean mass IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31761296 150480406 CV1239572 NM_173551.5(ANKS6):c.2326+260G>A variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28892062 150480747 CV1279568 NM_001382347.1(MYO5A):c.3859-314T>A variant EFO:0004584 obsolete_mean platelet volume IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150480769 CV1258789 NM_004230.4(S1PR2):c.*77T>G variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:28135244 150480787 CV1240259 NM_052965.4(TSEN15):c.56G>A (p.Gly19Asp) variant EFO:0004318 smoking behavior IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28443625 150480787 CV1240259 NM_052965.4(TSEN15):c.56G>A (p.Gly19Asp) variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28443625 150480788 CV1279578 NM_001040694.2(INCENP):c.1517T>C (p.Met506Thr) variant EFO:0000349 clear cell renal carcinoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38671320 150480788 CV1279578 NM_001040694.2(INCENP):c.1517T>C (p.Met506Thr) variant EFO:0001663 prostate carcinoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29892016 150480788 CV1279578 NM_001040694.2(INCENP):c.1517T>C (p.Met506Thr) variant EFO:0002890 renal carcinoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38671320 150480788 CV1279578 NM_001040694.2(INCENP):c.1517T>C (p.Met506Thr) variant EFO:0004193 basal cell carcinoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38182794 150480788 CV1279578 NM_001040694.2(INCENP):c.1517T>C (p.Met506Thr) variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32042192 150480802 CV1279581 NM_000375.3(UROS):c.-26-332C>T variant EFO:0802205 uroporphyrinogen-III synthase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150480833 CV1239660 NM_053056.3(CCND1):c.669C>T (p.Phe223=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36224396 150480833 CV1239660 NM_053056.3(CCND1):c.669C>T (p.Phe223=) variant EFO:MONDO:0004992 cancer IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32887889 150480833 CV1239660 NM_053056.3(CCND1):c.669C>T (p.Phe223=) variant EFO:MONDO:0008315 prostate cancer IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38538606 150480907 CV1279608 NM_000208.4(INSR):c.1610+264T>C variant EFO:0008328 chronotype measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32579418 150480991 CV1222077 NM_033100.4(CDHR1):c.639+82A>G variant EFO:0803370 photoreceptor cell layer thickness measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36848389 150481110 CV1279664 NM_004733.4(SLC33A1):c.1267-253C>T variant EFO:0005670 smoking initiation IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36477530 150481150 CV1279674 NM_030948.6(PHACTR1):c.251-149640A>G variant EFO:0000612 myocardial infarction IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33532862 150481150 CV1279674 NM_030948.6(PHACTR1):c.251-149640A>G variant EFO:0001645 coronary artery disease IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:22751097 150481150 CV1279674 NM_030948.6(PHACTR1):c.251-149640A>G variant EFO:0003913 angina pectoris IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150481150 CV1279674 NM_030948.6(PHACTR1):c.251-149640A>G variant EFO:0004723 coronary artery calcification IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:23394302 150481150 CV1279674 NM_030948.6(PHACTR1):c.251-149640A>G variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:30578418 150481150 CV1279674 NM_030948.6(PHACTR1):c.251-149640A>G variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:30578418 150481150 CV1279674 NM_030948.6(PHACTR1):c.251-149640A>G variant EFO:0007013 aspirin use measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150481150 CV1279674 NM_030948.6(PHACTR1):c.251-149640A>G variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30679032 150481150 CV1279674 NM_030948.6(PHACTR1):c.251-149640A>G variant EFO:0009925 Antithrombotic agent use measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150481150 CV1279674 NM_030948.6(PHACTR1):c.251-149640A>G variant EFO:0009926 Vasodilators used in cardiac diseases use measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150481150 CV1279674 NM_030948.6(PHACTR1):c.251-149640A>G variant EFO:0009939 Antimigraine preparation use measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150481150 CV1279674 NM_030948.6(PHACTR1):c.251-149640A>G variant EFO:HP:0002315 Headache IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29397368 150481150 CV1279674 NM_030948.6(PHACTR1):c.251-149640A>G variant EFO:MONDO:0005277 migraine disorder IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34294844 150481164 CV1222110 NM_001127392.3(MYRF):c.461-189T>G variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37106081 150481164 CV1222110 NM_001127392.3(MYRF):c.461-189T>G variant EFO:0010119 omega-3 polyunsaturated fatty acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481164 CV1222110 NM_001127392.3(MYRF):c.461-189T>G variant EFO:0010732 omega-6:omega-3 polyunsaturated fatty acid ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481232 CV1222124 NM_001127392.3(MYRF):c.399-149G>A variant EFO:0010223 diglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 150481232 CV1222124 NM_001127392.3(MYRF):c.399-149G>A variant EFO:0010226 phosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 150481310 CV1209768 NM_002972.4(SBF1):c.*76T>C variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39256582 150481343 CV1258902 NM_001377265.1(MAPT):c.220+2301A>G variant EFO:0020977 occupational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34613391 150481363 CV1222150 NM_015368.4(PANX1):c.545+98C>T variant EFO:0009933 Thyroid preparation use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31015401 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0000195 metabolic syndrome IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31589552 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0004732 lipoprotein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0005110 fatty acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0005680 omega-6 polyunsaturated fatty acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0006807 linoleic acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0010116 choline measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0010118 sphingomyelin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0010226 phosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0010351 cholesteryl ester measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0010733 polyunsaturated fatty acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0020946 phospholipids:total lipids ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0021903 cholesterol in medium HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0022189 total lipids in large HDL IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0022190 phospholipids in large HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0022264 free cholesterol in HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0022267 free cholesterol in medium HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0022270 free cholesterol in small HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0022282 free cholesterol to total lipids in medium HDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0022285 free cholesterol to total lipids in small HDL percentage IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0022291 phosphoglycerides measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0022293 phospholipids in HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0022295 phospholipids in medium HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0022304 saturated fatty acids measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0022307 total lipids in HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0022309 total lipids in lipoprotein particles measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0022310 total lipids in medium HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0022315 total phospholipids in lipoprotein particles measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:0022324 triglycerides in very large HDL measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36764567 150481526 CV1244117 NM_005502.4(ABCA1):c.161-170G>A variant EFO:OBA:2045104 level of Phosphatidylcholine (18:1_20:4) in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36193934 150481823 CV1222230 NM_006420.3(ARFGEF2):c.4624+180G>A variant EFO:0021812 phoneme awareness IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35998220 150481939 CV1259006 NM_000342.4(SLC4A1):c.169-65T>C variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888494 150481946 CV1259007 NM_016239.4(MYO15A):c.9386+110T>C variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150482158 CV1221007 NM_004284.6(CHD1L):c.2019-52G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150482171 CV1279926 NM_000092.5(COL4A4):c.4333+210C>T variant EFO:0004285 albuminuria IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30220432 150482171 CV1279926 NM_000092.5(COL4A4):c.4333+210C>T variant EFO:0007778 urinary albumin to creatinine ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31630189 150482432 CV1279980 NC_000004.12:g.154562762C>T variant EFO:0004623 obsolete_fibrinogen measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:21757653 150482687 CV1280039 NM_014804.3(KIAA0753):c.825+199T>C variant EFO:0001071 lung carcinoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29924316 150482687 CV1280039 NM_014804.3(KIAA0753):c.825+199T>C variant EFO:0006953 family history of lung cancer IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29924316 150482756 CV1247506 NM_021095.4(SLC5A6):c.1442C>T (p.Ser481Phe) variant EFO:0021034 pantothenate measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:24816252 150483098 CV1280132 NC_000011.10:g.68449288C>T variant EFO:0004875 mathematical ability IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30038396 150483100 CV1261728 NM_002382.5(MAX):c.295+264G>T variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34648354 150483100 CV1261728 NM_002382.5(MAX):c.295+264G>T variant EFO:0007991 eosinophil percentage of leukocytes IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888494 150483161 CV1247574 NM_012179.4(FBXO7):c.122+116C>T variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150483161 CV1247574 NM_012179.4(FBXO7):c.122+116C>T variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150483161 CV1247574 NM_012179.4(FBXO7):c.122+116C>T variant EFO:0010701 mean reticulocyte volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150483392 CV1210125 NC_000019.10:g.46600969T>C variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32778093 150483394 CV1223582 NM_030773.4(TUBB1):c.128A>C (p.Gln43Pro) variant EFO:0004309 platelet count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39414775 150483394 CV1223582 NM_030773.4(TUBB1):c.128A>C (p.Gln43Pro) variant EFO:0005036 obsolete_platelet measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 150483394 CV1223582 NM_030773.4(TUBB1):c.128A>C (p.Gln43Pro) variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150483394 CV1223582 NM_030773.4(TUBB1):c.128A>C (p.Gln43Pro) variant EFO:0007984 platelet component distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150483394 CV1223582 NM_030773.4(TUBB1):c.128A>C (p.Gln43Pro) variant EFO:0009187 obsolete_immature platelet fraction IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 150483394 CV1223582 NM_030773.4(TUBB1):c.128A>C (p.Gln43Pro) variant EFO:0803541 immature platelet measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 150483394 CV1223582 NM_030773.4(TUBB1):c.128A>C (p.Gln43Pro) variant EFO:0803544 immature platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:37596262 150483638 CV1245144 NM_000078.3(CETP):c.118+202G>A variant EFO:0004458 C-reactive protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27286809 150483638 CV1245144 NM_000078.3(CETP):c.118+202G>A variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 150483638 CV1245144 NM_000078.3(CETP):c.118+202G>A variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34610981 150483638 CV1245144 NM_000078.3(CETP):c.118+202G>A variant EFO:0010223 diglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 150483638 CV1245144 NM_000078.3(CETP):c.118+202G>A variant EFO:0010230 phosphatidylinositol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35668104 150483638 CV1245144 NM_000078.3(CETP):c.118+202G>A variant EFO:0800420 1-(1-enyl-palmitoyl)-2-oleoyl-GPC (P-16:0/18:1) measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 150483682 CV1263030 NM_001127392.3(MYRF):c.2572+42A>G variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150483682 CV1263030 NM_001127392.3(MYRF):c.2572+42A>G variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150483682 CV1263030 NM_001127392.3(MYRF):c.2572+42A>G variant EFO:0005110 fatty acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150483682 CV1263030 NM_001127392.3(MYRF):c.2572+42A>G variant EFO:0007759 alpha-linolenic acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26584805 150483682 CV1263030 NM_001127392.3(MYRF):c.2572+42A>G variant EFO:0010226 phosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150483682 CV1263030 NM_001127392.3(MYRF):c.2572+42A>G variant EFO:0010228 phosphatidylethanolamine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150483725 CV1222349 NM_016169.4(SUFU):c.1022+49T>C variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25673413 150483779 CV1222358 NM_015532.5(POLR2M):c.183C>T (p.Ala61=) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150483824 CV1245175 NC_000013.11:g.94596312C>T variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30275531 150483824 CV1245175 NC_000013.11:g.94596312C>T variant EFO:0004696 sex hormone-binding globulin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34321204 150483907 CV1280312 NM_001243279.3(ACSF3):c.-20-82G>A variant EFO:0006794 obsolete_cerebrospinal fluid biomarker measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528826 150483907 CV1280312 NM_001243279.3(ACSF3):c.-20-82G>A variant EFO:0800622 methylmalonate (MMA) measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528826 150483938 CV1263075 NM_005902.4(SMAD3):c.533-478T>C variant EFO:0001645 coronary artery disease IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:17634449 150483938 CV1263075 NM_005902.4(SMAD3):c.533-478T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36224396 150483958 CV1222391 NM_000697.3(ALOX12):c.965A>G (p.Asn322Ser) variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150484112 CV1245230 NM_019601.4(SUSD2):c.1397A>G (p.Asn466Ser) variant EFO:MONDO:0004976 amyotrophic lateral sclerosis IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:23624525 150484199 CV1280392 NC_000002.12:g.218270227C>T variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150484199 CV1280392 NC_000002.12:g.218270227C>T variant EFO:0005090 basophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150484400 CV1222484 NM_000392.5(ABCC2):c.868-218G>T variant EFO:0004532 serum gamma-glutamyl transferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333282 150484400 CV1222484 NM_000392.5(ABCC2):c.868-218G>T variant EFO:0004735 serum alanine aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36333282 150484476 CV1280473 NM_006016.6(CD164):c.260-185G>A variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39256582 150484580 CV1263210 NM_021110.4(COL14A1):c.4551+207A>G variant EFO:0009658 adverse effect IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30420678 150484580 CV1263210 NM_021110.4(COL14A1):c.4551+207A>G variant EFO:GO:0009410 response to xenobiotic stimulus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30420678 150484633 CV1280518 NM_000085.5(CLCNKB):c.655+133G>A variant EFO:0004348 hematocrit IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888494 150484715 CV1222553 NC_000019.10:g.12887391G>C variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150484715 CV1222553 NC_000019.10:g.12887391G>C variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150484715 CV1222553 NC_000019.10:g.12887391G>C variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150484715 CV1222553 NC_000019.10:g.12887391G>C variant EFO:0010700 reticulocyte measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150484715 CV1222553 NC_000019.10:g.12887391G>C variant EFO:0020990 arginine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35050183 150484739 CV1280550 NM_019074.4(DLL4):c.336+173G>C variant EFO:0004337 intelligence IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:29844566 150484739 CV1280550 NM_019074.4(DLL4):c.336+173G>C variant EFO:0008354 cognitive function measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30038396 150484776 CV1222566 NM_201253.3(CRB1):c.4006-92G>T variant EFO:0007660 neuroticism measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29942085 150484854 CV1250109 NM_001868.4(CPA1):c.1072+131A>G variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 150484883 CV1250115 NM_015908.6(SRRT):c.1042-18C>G variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32327693 150484964 CV1250131 NM_004434.3(EML1):c.1495-226G>A variant EFO:0004346 neuroimaging measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38811844 150484964 CV1250131 NM_004434.3(EML1):c.1495-226G>A variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34887591 150485118 CV1250161 NM_001457.4(FLNB):c.2323+74G>T variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34021172 150485190 CV1222652 NM_002293.4(LAMC1):c.3704+14G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150485200 CV1262044 NM_014423.4(AFF4):c.1087+121G>C variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32451486 150485220 CV1250183 NM_001379500.1(COL18A1):c.1453-68C>T variant EFO:0007702 hip bone mineral density IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29883787 150485396 CV1222988 NM_001283.5(AP1S1):c.*293C>T variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30239722 150485439 CV1250227 NM_003742.4(ABCB11):c.1309-311C>T variant EFO:0003940 physical activity IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30670697 150485439 CV1250227 NM_003742.4(ABCB11):c.1309-311C>T variant EFO:0004329 alcohol drinking IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:30698716 150485439 CV1250227 NM_003742.4(ABCB11):c.1309-311C>T variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150485439 CV1250227 NM_003742.4(ABCB11):c.1309-311C>T variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:30698716 150485439 CV1250227 NM_003742.4(ABCB11):c.1309-311C>T variant EFO:0007878 obsolete_alcohol consumption quality IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:30698716 150485450 CV1222999 NM_145807.4(NTN5):c.1025-75C>T variant EFO:0009092 obsolete_breast milk measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39232002 150485460 CV1280748 NM_000238.4(KCNH2):c.473-53C>T variant EFO:0004682 QT interval IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36050321 150485684 CV1262146 NM_000039.3(APOA1):c.201-211T>C variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150485742 CV1250292 NM_000044.6(AR):c.2450-44G>A variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:19060910 150485804 CV1250304 NM_003805.5(CRADD):c.406C>T (p.Leu136=) variant EFO:0004747 protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150485952 CV1223106 NM_004426.3(PHC1):c.457-215G>T variant EFO:0004343 waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30239722 150485952 CV1223106 NM_004426.3(PHC1):c.457-215G>T variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30239722 150485956 CV1223107 NM_002246.3(KCNK3):c.-120G>T variant EFO:0004348 hematocrit IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150485956 CV1223107 NM_002246.3(KCNK3):c.-120G>T variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30578418 150485956 CV1223107 NM_002246.3(KCNK3):c.-120G>T variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30578418 150485956 CV1223107 NM_002246.3(KCNK3):c.-120G>T variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150485956 CV1223107 NM_002246.3(KCNK3):c.-120G>T variant EFO:0009930 Calcium channel blocker use measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150485975 CV1250338 NM_003884.5(KAT2B):c.430+38C>A variant EFO:0007825 balding measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30573740 150486005 CV1262210 NM_001377304.1(GFI1B):c.101-37C>T variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150486062 CV1223128 NM_006901.4(MYO9A):c.*144C>G variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:27863252 150486063 CV1280906 NM_032977.4(CASP10):c.684+149C>T variant EFO:0004735 serum alanine aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150486063 CV1280906 NM_032977.4(CASP10):c.684+149C>T variant EFO:0006821 trans fatty acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25646338 150486063 CV1280906 NM_032977.4(CASP10):c.684+149C>T variant EFO:0006824 cis/trans-18:2 fatty acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:25646338 150486074 CV1223131 NM_018365.4(MNS1):c.164A>C (p.Gln55Pro) variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30778226 150486158 CV1250374 NM_015268.4(DNAJC13):c.2710-76T>G variant EFO:0005192 obsolete_red blood cell distribution width IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888494 150486158 CV1250374 NM_015268.4(DNAJC13):c.2710-76T>G variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150486292 CV1251337 NM_019032.6(ADAMTSL4):c.2560-78G>A variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32888493 150486307 CV1251339 NM_031427.4(DNAL1):c.208+200A>G variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 150486325 CV1283576 NM_000092.5(COL4A4):c.4334-143C>T variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30578418 150486369 CV1234586 NM_000051.4(ATM):c.2839-882C>T variant EFO:0004842 eosinophil count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150486436 CV1225741 NM_004329.3(BMPR1A):c.-268+5732G>A variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150486554 CV1225760 NM_001734.5(C1S):c.392-233T>A variant EFO:0008090 complement C1r subcomponent measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 150486554 CV1225760 NM_001734.5(C1S):c.392-233T>A variant EFO:0801358 adseverin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150486598 CV1203321 NM_032638.5(GATA2):c.872-95C>G variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38689001 150486598 CV1203321 NM_032638.5(GATA2):c.872-95C>G variant EFO:0006335 systolic blood pressure IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38689001 150486598 CV1203321 NM_032638.5(GATA2):c.872-95C>G variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:30578418 150486598 CV1203321 NM_032638.5(GATA2):c.872-95C>G variant EFO:0020865 aortic measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:35637384 150486611 CV1283636 NM_015512.5(DNAH1):c.2527-162A>G variant EFO:0005230 anxiety IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29942085 150486633 CV1251388 NM_005208.5(CRYBA1):c.97-238T>C variant EFO:0003761 obsolete_unipolar depression IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29700475 150486633 CV1251388 NM_005208.5(CRYBA1):c.97-238T>C variant EFO:MONDO:0002009 major depressive disorder IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29700475 150486754 CV1237221 NM_001129820.2(SLFN14):c.2735A>T (p.Tyr912Phe) variant EFO:0004309 platelet count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150486754 CV1237221 NM_001129820.2(SLFN14):c.2735A>T (p.Tyr912Phe) variant EFO:0007984 platelet component distribution width IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150486754 CV1237221 NM_001129820.2(SLFN14):c.2735A>T (p.Tyr912Phe) variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150486754 CV1237221 NM_001129820.2(SLFN14):c.2735A>T (p.Tyr912Phe) variant EFO:0009188 Red cell distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150486754 CV1237221 NM_001129820.2(SLFN14):c.2735A>T (p.Tyr912Phe) variant EFO:0803541 immature platelet measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37596262 150486796 CV1283674 NM_032409.3(PINK1):c.1251+43C>T variant EFO:0009695 household income IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31844048 150486826 CV1262638 NC_000014.9:g.94770370G>A variant EFO:0004685 hip geometry IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39574169 150486954 CV1251442 NM_001080512.3(BICC1):c.190+62C>A variant EFO:0004761 uric acid measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34719683 150486973 CV1225831 NM_001201550.3(CFHR4):c.1181-156T>A variant EFO:0008097 complement factor H measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36168886 150487062 CV1237271 NM_003052.5(SLC34A1):c.533-107G>A variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31451708 150487078 CV1237274 NM_001086521.2(NDUFAF8):c.84+58G>A variant EFO:0008427 IgG fucosylation measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28878392 150487144 CV1237285 NM_005879.3(TRAIP):c.408+100T>A variant EFO:0004509 hemoglobin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32327693 150487163 CV1237288 NM_032608.7(MYO18B):c.199-3C>T variant EFO:0000275 atrial fibrillation IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29892015 150487163 CV1237288 NM_032608.7(MYO18B):c.199-3C>T variant EFO:MONDO:0015263 Brugada syndrome IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:35210625 150487569 CV1237355 NM_001080467.3(MYO5B):c.2415-298G>A variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150487569 CV1237355 NM_001080467.3(MYO5B):c.2415-298G>A variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150487569 CV1237355 NM_001080467.3(MYO5B):c.2415-298G>A variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150487940 CV1237408 NM_133372.3(FNIP1):c.1943A>G (p.Gln648Arg) variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:29083408 150488202 CV1226022 NM_015690.5(STK36):c.3335G>A (p.Arg1112Gln) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33230300 150488356 CV1237467 NM_000932.5(PLCB3):c.2534C>T (p.Ser845Leu) variant EFO:0004307 glucose tolerance test IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39280063 150488356 CV1237467 NM_000932.5(PLCB3):c.2534C>T (p.Ser845Leu) variant EFO:0004343 waist-hip ratio IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30239722 150488356 CV1237467 NM_000932.5(PLCB3):c.2534C>T (p.Ser845Leu) variant EFO:0004466 obsolete_fasting blood insulin measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39280063 150488356 CV1237467 NM_000932.5(PLCB3):c.2534C>T (p.Ser845Leu) variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:36376304 150488356 CV1237467 NM_000932.5(PLCB3):c.2534C>T (p.Ser845Leu) variant EFO:0004531 urate measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33462484 150488356 CV1237467 NM_000932.5(PLCB3):c.2534C>T (p.Ser845Leu) variant EFO:0004541 HbA1c measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33462484 150488356 CV1237467 NM_000932.5(PLCB3):c.2534C>T (p.Ser845Leu) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:29083408 150488356 CV1237467 NM_000932.5(PLCB3):c.2534C>T (p.Ser845Leu) variant EFO:0004614 apolipoprotein A 1 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33462484 150488356 CV1237467 NM_000932.5(PLCB3):c.2534C>T (p.Ser845Leu) variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:33462484 150488356 CV1237467 NM_000932.5(PLCB3):c.2534C>T (p.Ser845Leu) variant EFO:0004735 serum alanine aminotransferase measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:38632349 150488356 CV1237467 NM_000932.5(PLCB3):c.2534C>T (p.Ser845Leu) variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30778226 150488356 CV1237467 NM_000932.5(PLCB3):c.2534C>T (p.Ser845Leu) variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29632382 150488505 CV1251679 NM_001370466.1(NOD2):c.2717+265A>G variant EFO:0000384 Crohn's disease IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:21102463 150488581 CV1274662 NM_001371904.1(APOA5):c.-3G>A variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:26763881 150488581 CV1274662 NM_001371904.1(APOA5):c.-3G>A variant EFO:0010118 sphingomyelin measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150488581 CV1274662 NM_001371904.1(APOA5):c.-3G>A variant EFO:0010226 phosphatidylcholine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150488581 CV1274662 NM_001371904.1(APOA5):c.-3G>A variant EFO:0010341 cholesteryl ester 16:0 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150488581 CV1274662 NM_001371904.1(APOA5):c.-3G>A variant EFO:0010351 cholesteryl ester measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150488581 CV1274662 NM_001371904.1(APOA5):c.-3G>A variant EFO:0010352 diacylglycerol 34:1 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150488581 CV1274662 NM_001371904.1(APOA5):c.-3G>A variant EFO:0010355 diacylglycerol 36:2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150488581 CV1274662 NM_001371904.1(APOA5):c.-3G>A variant EFO:0020055 diacylglycerol 32.2 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150488581 CV1274662 NM_001371904.1(APOA5):c.-3G>A variant EFO:0020058 diacylglycerol 34:0 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150488581 CV1274662 NM_001371904.1(APOA5):c.-3G>A variant EFO:0020059 diacylglycerol 34:3 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150488581 CV1274662 NM_001371904.1(APOA5):c.-3G>A variant EFO:0020063 diacylglycerol 36:4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34503513 150488593 CV1250405 NM_001750.7(CAST):c.2037+191A>G variant EFO:1001231 uveitis IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150488717 CV1250425 NM_015268.4(DNAJC13):c.*293A>G variant EFO:0008048 C-C motif chemokine 21 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28240269 150488779 CV1250435 NM_004239.4(TRIP11):c.1527+41A>G variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 150488885 CV1265319 NM_006000.3(TUBA4A):c.227-74C>A variant EFO:0007984 platelet component distribution width IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150488886 CV1237551 NM_020406.4(CD177):c.1291G>A (p.Gly431Arg) variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35078996 150488886 CV1237551 NM_020406.4(CD177):c.1291G>A (p.Gly431Arg) variant EFO:0021866 cD177 antigen measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29875488 150488910 CV1237555 NM_016239.4(MYO15A):c.7787+76T>C variant EFO:0004305 erythrocyte count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150488910 CV1237555 NM_016239.4(MYO15A):c.7787+76T>C variant EFO:0007978 obsolete_red blood cell density measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150488918 CV1250457 NM_001250.6(CD40):c.676-114G>A variant EFO:0007660 neuroticism measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29942085 150489013 CV1284147 NC_000008.11:g.144094920G>T variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 150489016 CV1265341 NM_001283009.2(RTEL1):c.1038-239C>T variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 150489033 CV1284151 NM_001160148.2(DDHD1):c.-169G>A variant EFO:0004309 platelet count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150489208 CV1237613 NM_181523.3(PIK3R1):c.1986-224T>C variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150489208 CV1237613 NM_181523.3(PIK3R1):c.1986-224T>C variant EFO:0004526 obsolete_mean corpuscular volume IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150489438 CV1268896 NM_001846.4(COL4A2):c.913-141T>G variant EFO:0010554 retinal vasculature measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:31597446 150489623 CV1238977 NM_022437.3(ABCG8):c.1211+137G>A variant EFO:0004574 total cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150489623 CV1238977 NM_022437.3(ABCG8):c.1211+137G>A variant EFO:0004611 low density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150489623 CV1238977 NM_022437.3(ABCG8):c.1211+137G>A variant EFO:0004615 apolipoprotein B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:33462484 150489628 CV1238978 NM_001098201.3(GPER1):c.47C>T (p.Pro16Leu) variant EFO:0001663 prostate carcinoma IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:31748686 150489803 CV1250921 NM_024312.5(GNPTAB):c.3435-246A>G variant EFO:0009167 obsolete_response to warfarin IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39163621 150490359 CV1267597 NM_022124.6(CDH23):c.8723-259C>T variant EFO:0008141 granulins measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:29875488 150490714 CV1239162 NM_002292.4(LAMB2):c.1890+25G>A variant EFO:0004462 PR interval IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32439900 150490714 CV1239162 NM_002292.4(LAMB2):c.1890+25G>A variant EFO:0004682 QT interval IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36050321 150490722 CV1251074 NM_000892.5(KLKB1):c.58+133G>A variant EFO:0009767 glycine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30837465 150490722 CV1251074 NM_000892.5(KLKB1):c.58+133G>A variant EFO:0009769 histidine measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:32150548 150490722 CV1251074 NM_000892.5(KLKB1):c.58+133G>A variant EFO:OBA:2042522 level of neurocan core protein in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34857772 150490722 CV1251074 NM_000892.5(KLKB1):c.58+133G>A variant EFO:OBA:2044466 level of draxin in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34857772 150490986 CV1267703 NM_003126.4(SPTA1):c.5565+190C>T variant EFO:0004527 mean corpuscular hemoglobin IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150490986 CV1267703 NM_003126.4(SPTA1):c.5565+190C>T variant EFO:0004528 mean corpuscular hemoglobin concentration IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 150490995 CV1222684 NM_001099271.2(POC5):c.107A>G (p.His36Arg) variant EFO:0000195 metabolic syndrome IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31589552 150490995 CV1222684 NM_001099271.2(POC5):c.107A>G (p.His36Arg) variant EFO:0004338 body weight IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150490995 CV1222684 NM_001099271.2(POC5):c.107A>G (p.His36Arg) variant EFO:0004340 body mass index IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 150490995 CV1222684 NM_001099271.2(POC5):c.107A>G (p.His36Arg) variant EFO:0004612 high density lipoprotein cholesterol measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150490995 CV1222684 NM_001099271.2(POC5):c.107A>G (p.His36Arg) variant EFO:0004765 obsolete_visceral adipose tissue measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31501611 150490995 CV1222684 NM_001099271.2(POC5):c.107A>G (p.His36Arg) variant EFO:0004995 lean body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 150490995 CV1222684 NM_001099271.2(POC5):c.107A>G (p.His36Arg) variant EFO:0005208 obsolete_glomerular filtration rate IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39256582 150490995 CV1222684 NM_001099271.2(POC5):c.107A>G (p.His36Arg) variant EFO:0005409 obsolete_fat body mass IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38538606 150490995 CV1222684 NM_001099271.2(POC5):c.107A>G (p.His36Arg) variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150490995 CV1222684 NM_001099271.2(POC5):c.107A>G (p.His36Arg) variant EFO:0006336 diastolic blood pressure IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:38689001 150490995 CV1222684 NM_001099271.2(POC5):c.107A>G (p.His36Arg) variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30054458 150491012 CV1222687 NM_017872.5(THG1L):c.695T>C (p.Leu232Pro) variant EFO:OBA:2044366 level of probable tRNA(His) guanylyltransferase in blood serum IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35870639 150491134 CV1222707 NC_000011.10:g.47331206C>T variant EFO:0005763 pulse pressure measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35762941 150491160 CV1222711 NM_003376.6(VEGFA):c.659-99G>A variant EFO:0004698 insomnia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35835914 150491212 CV1267740 NM_000285.4(PEPD):c.819-233T>C variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150491212 CV1267740 NM_000285.4(PEPD):c.819-233T>C variant EFO:0004343 waist-hip ratio IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:30575882 150491212 CV1267740 NM_000285.4(PEPD):c.819-233T>C variant EFO:0004593 gestational diabetes IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:37779084 150491212 CV1267740 NM_000285.4(PEPD):c.819-233T>C variant EFO:0007788 BMI-adjusted waist-hip ratio IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:30575882 150491212 CV1267740 NM_000285.4(PEPD):c.819-233T>C variant EFO:0007789 BMI-adjusted waist circumference IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28448500 150491212 CV1267740 NM_000285.4(PEPD):c.819-233T>C variant EFO:0008002 physical activity measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28448500 150491212 CV1267740 NM_000285.4(PEPD):c.819-233T>C variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:28869590 150491240 CV1251159 NM_003042.4(SLC6A1):c.1527+36G>A variant EFO:0004312 vital capacity IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31902109 150491240 CV1251159 NM_003042.4(SLC6A1):c.1527+36G>A variant EFO:0004314 forced expiratory volume IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:31902109 150491297 CV1222733 NM_000921.5(PDE3A):c.1846+110C>T variant EFO:0007825 balding measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30573740 150491483 CV1267782 NM_018556.4(SIRPG):c.*3-269A>G variant EFO:0007937 blood protein measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:30072576 150491668 CV1251227 NM_015368.4(PANX1):c.546-130A>G variant EFO:0004736 aspartate aminotransferase measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150491838 CV1253827 NM_002109.6(HARS1):c.1312-75G>A variant EFO:0008354 cognitive function measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30038396 150491927 CV1267857 NM_006180.6(NTRK2):c.212+40C>T variant EFO:0004784 self reported educational attainment IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:30038396 150491940 CV1238084 NM_014159.7(SETD2):c.7098+140A>T variant EFO:0004308 obsolete_leukocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150491940 CV1238084 NM_014159.7(SETD2):c.7098+140A>T variant EFO:0004536 total blood protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150491940 CV1238084 NM_014159.7(SETD2):c.7098+140A>T variant EFO:0004587 lymphocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:32888493 150491940 CV1238084 NM_014159.7(SETD2):c.7098+140A>T variant EFO:0005090 basophil count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150491940 CV1238084 NM_014159.7(SETD2):c.7098+140A>T variant EFO:0005091 monocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150491940 CV1238084 NM_014159.7(SETD2):c.7098+140A>T variant EFO:0007629 hemoglobin A1 measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:34594039 150491940 CV1238084 NM_014159.7(SETD2):c.7098+140A>T variant EFO:0007988 obsolete_myeloid white cell count IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888493 150491940 CV1238084 NM_014159.7(SETD2):c.7098+140A>T variant EFO:0007990 neutrophil percentage of leukocytes IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:32888494 150491940 CV1238084 NM_014159.7(SETD2):c.7098+140A>T variant EFO:0007993 lymphocyte percentage of leukocytes IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150491947 CV1225387 NM_006929.5(SKIC2):c.545-127G>A variant EFO:0004747 protein measurement IAGP T RGD:405850206 20250118 GWAS_CATALOG PMID:39528825 150491947 CV1225387 NM_006929.5(SKIC2):c.545-127G>A variant EFO:0004984 complement C4 measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28240269 150491947 CV1225387 NM_006929.5(SKIC2):c.545-127G>A variant EFO:0008140 gp41 C34 peptide, HIV measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:28240269 150491947 CV1225387 NM_006929.5(SKIC2):c.545-127G>A variant EFO:0803098 sperm-associated antigen 11B measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34648354 150491978 CV1280746 NM_012079.6(DGAT1):c.288+264C>T variant EFO:MONDO:0005148 type 2 diabetes mellitus IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35551307 150492124 CV1280842 NM_001195518.2(MICU1):c.*100C>T variant EFO:0011015 educational attainment IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35361970 150492126 CV1253876 NM_198060.4(NRAP):c.1469C>T (p.Ser490Leu) variant EFO:0004682 QT interval IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29874175 150492285 CV1225444 NM_032801.5(JAM3):c.897+32G>A variant EFO:0004833 neutrophil count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150492451 CV1225476 NM_002225.5(IVD):c.784+131G>A variant EFO:0004337 intelligence IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:29326435 150492451 CV1225476 NM_002225.5(IVD):c.784+131G>A variant EFO:0004339 obsolete_body height IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:36224396 150492465 CV1253940 NM_001077350.3(NPRL3):c.925-180G>A variant EFO:0007986 reticulocyte count IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:27863252 150492497 CV1238187 NM_000075.4(CDK4):c.219-31G>A variant EFO:0004698 insomnia IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35835914 150492522 CV1238192 NM_001131005.2(MEF2C):c.-239-236T>C variant EFO:0004530 triglyceride measurement IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:23400010 150492522 CV1238192 NM_001131005.2(MEF2C):c.-239-236T>C variant EFO:OBA:2040093 trait in response to hydrochlorothiazide IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:23400010 150492538 CV1225494 NM_139276.3(STAT3):c.1233+43C>G variant EFO:MONDO:0005301 multiple sclerosis IAGP T RGD:405850206 20250111 GWAS_CATALOG PMID:22190364 150492543 CV1225495 NM_182914.3(SYNE2):c.3638+290T>C variant EFO:0007874 gut microbiome measurement IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:35115690 150492582 CV1225502 NM_144573.4(NEXN):c.-53+141G>T variant EFO:0004309 platelet count IAGP T RGD:405850206 20240719 GWAS_CATALOG PMID:34594039 150492597 CV1225505 NC_000004.12:g.154