rs495828

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GWAS Catalog Trait Associations (22)

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

hemoglobin measurement

Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)
Allele T
OR —
β 0.065
p 1.0e-124
N 684,122
Large GWAS
European
van Rooij FJA et al. “Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.” American Journal of Human Genetics 100(1):51-63 (2017)
Allele T
OR 0.10
p 2.0e-10
N 71,638
Meta-analysisLarge GWAS
multi-ancestry
Kamatani Y et al. “Genome-wide association study of hematological and biochemical traits in a Japanese population.” Nature Genetics 42(3):210-5 (2010)
Allele T
OR 0.09
p 1.0e-11
N 14,402
Large GWAS
East Asian

low density lipoprotein cholesterol measurement, alcohol drinking

de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele T
OR —
p 4.0e-86
N 127,326
Large GWAS
multi-ancestry

alkaline phosphatase measurement

Kamatani Y et al. “Genome-wide association study of hematological and biochemical traits in a Japanese population.” Nature Genetics 42(3):210-5 (2010)
Allele T
OR 0.31
p 4.0e-59
N 14,402
Large GWAS
East Asian

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele T
OR 0.01
p 3.0e-46
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

DSGEGDFXAEGGGVR-to-ADpSGEGDFXAEGGGVR ratio

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele T
OR —
β 0.088
p 6.0e-34
N 2,019
Large GWAS
European

HbA1c measurement

Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)
Allele T
OR 0.05
p 2.0e-24
N 288,127
Large GWAS
East Asian

scavenger receptor class F member 1 measurement

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 0.06
p 5.0e-17
N 47,745
Large GWAS
European

venous thromboembolism

Heit JA et al. “A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q.” Journal of Thrombosis and Haemostasis : Jth 10(8):1521-1531 (2012)
Allele T
OR 1.65
p 3.0e-16
N 2,962
Large GWAS
European, Other

tissue factor measurement

Folkersen L et al. “Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease.” Plos Genetics 13(4):e1006706 (2017)
Allele T
OR 0.17
p 6.0e-13
N 3,394
Large GWAS
European
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Research that mentions this SNP (1)

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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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