rs1707304

This is a regulatory region variant variant in the PIK3R3 gene.

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GWAS Catalog Trait Associations (1)

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

hearing loss

Cornejo-Sanchez DM et al. “Rare-variant association analysis reveals known and new age-related hearing loss genes.” European Journal of Human Genetics : Ejhg 31(6):638-647 (2023)

Allele A

OR 0.05

p 2.0e-8

N 142,103

Large GWAS

European

About PIK3R3

Phosphatidylinositol 3-kinase (PI3K) phosphorylates phosphatidylinositol and similar compounds, which then serve as second messengers in growth signaling pathways. PI3K is composed of a catalytic and a regulatory subunit. The protein encoded by this gene represents a regulatory subunit of PI3K. The encoded protein contains two SH2 domains through which it binds activated protein tyrosine kinases to regulate their activity. [provided by RefSeq, Jun 2016]

View all PIK3R3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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