rs7649075

This is a upstream gene variant variant in the PLXNA1 gene.

GWAS Catalog Trait Associations (1)

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

platelet count

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.02
p 2.0e-10
N 408,112
Large GWAS
European

About PLXNA1

Predicted to enable semaphorin receptor activity. Predicted to be involved in several processes, including T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell; nervous system development; and semaphorin-plexin signaling pathway. Predicted to act upstream of or within dichotomous subdivision of terminal units involved in salivary gland branching; neuron projection extension; and regulation of smooth muscle cell migration. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

View all PLXNA1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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