rs113817740

This is a intron variant variant in the SVEP1 gene.

GWAS Catalog Trait Associations (1)

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

Sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1 measurement

Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.71
p 4.0e-94
N 10,708
Large GWAS
European

About SVEP1

Enables integrin binding activity. Involved in negative regulation of vasoconstriction and positive regulation of platelet activation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

View all SVEP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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