rs149254521

This is a protein-altering variant in the PEAR1 gene.

GWAS Catalog Trait Associations (1)

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

platelet volume

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.39
p 2.0e-14
N 408,112
Large GWAS
European

About PEAR1

PEAR1 is a platelet receptor that signals upon the formation of platelet-platelet contacts independent of platelet activation and secondary to platelet aggregation (Nanda et al., 2005 [PubMed 15851471]).[supplied by OMIM, Mar 2008]

View all PEAR1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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