rs3732760

This variant is located in the P2RY12 gene.

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GWAS Catalog Trait Associations (1)

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

digestive system disease, abdominal abscess

Tängdén T et al. “A genome-wide association study in a large community-based cohort identifies multiple loci associated with susceptibility to bacterial and viral infections.” Scientific Reports 12(1):2582 (2022)

Allele C

OR 1.05

p 1.0e-8

N 337,484

Large GWAS

European

About P2RY12

The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is involved in platelet aggregation, and is a potential target for the treatment of thromboembolisms and other clotting disorders. Mutations in this gene are implicated in bleeding disorder, platelet type 8 (BDPLT8). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

View all P2RY12 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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