rs8176693

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GWAS Catalog Trait Associations (20)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

cadherin-5 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 1.25
p —
N 10,708
Large GWAS
European

tyrosine-protein kinase receptor Tie-1, soluble measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele T
OR 1.07
p 8.0e-153
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

erythrocyte count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.10
p 2.0e-105
N 581,827
Major Consortium StudyLarge GWAS
multi-ancestry
Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele C
OR 0.07
p 1.0e-30
N 38,000
Large GWAS
South Asian

basal cell adhesion molecule amount

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.41
p 2.0e-57
N 10,708
Large GWAS
European

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.38
p 8.0e-47
N 10,708
Large GWAS
European

angiopoietin-2 receptor measurement, vascular endothelial growth factor A level

Lieb W et al. “Genome-wide association study for endothelial growth factors.” Circulation. Cardiovascular Genetics 8(2):389-97 (2015)
Allele T
OR 0.15
p 2.0e-33
N 3,574
Large GWAS
European

platelet glycoprotein 4 level

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.58
p 1.0e-32
N 3,301
Large GWAS
European

vascular cell adhesion protein 1 amount

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.13
p 2.0e-32
N 47,745
Large GWAS
European

angiopoietin-1 receptor, soluble measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.56
p 1.0e-30
N 3,301
Large GWAS
European
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Research that mentions this SNP (2)

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Gene‐centric approach identifies new and known loci for F VIII activity and VWF antigen levels in E uropean A mericans and A frican A mericans
AssociationN=23,603Weihong Tang et al.(2015)· American Journal of Hematology

Gene-centric association study of 18,556 European Americans and 5,047 African Americans identified novel genetic loci associated with Factor VIII coagulant activity (FVIII:C) and von Willebrand factor antigen (VWF:Ag). New associations were found at KNG1 (rs710446, Ile581Thr, p=5.10×10⁻⁷ in EAs; p=3.88×10⁻³ in AAs), VWF (rs7962217, Gly2705Arg, p=6.30×10⁻⁹ in EAs; p=2.98×10⁻² in AAs), TMLHE (rs12557310, p=8.02×10⁻¹⁰ in EAs), and MAT1A (rs2236568, p=1.69×10⁻⁶ in AAs). Variants explained 14.5% of variance in FVIII:C and 15.6% in VWF:Ag.

Traits studied:Cardiovascular diseaseFactor VIII coagulant activity (FVIII:C)Venous thromboembolismvon Willebrand factor antigen (VWF:Ag)
PubMedDOIMetascience Observatory
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Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B
AssociationN=6,033Jiang DK et al.(2015)· Hepatology

A genome-wide association study of 83 plasma proteins relevant to cardiovascular disease in 3,394 European subjects identified 79 genome-wide significant loci (p<5e-8), with 55 replicating in independent cohorts (n=2,639). Using eQTL analysis and network methods, the authors proposed plausible causal mechanisms for 25 trans-acting loci including post-translational regulation of KITLG by MMP9 and several receptor-ligand pairs. Multiple loci showed evidence of causal association with coronary artery disease risk.

Traits studied:AtherosclerosisCoronary artery diseasePlaque rupturePlasma protein levels (83 cardiovascular disease-related proteins)Thrombosis
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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