rs1707302

This variant is located in the PIK3R3 gene.

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GWAS Catalog Trait Associations (3)

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

breast carcinoma

Shu X et al. “Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants.” Nature Communications 11(1):1217 (2020)
Allele A
OR 0.96
p 3.0e-10
N 277,932
Large GWAS
multi-ancestry
Michailidou K et al. “Association analysis identifies 65 new breast cancer risk loci.” Nature 551(7678):92-94 (2017)
Allele A
OR 1.04
p 3.0e-8
N 139,274
Large GWAS
multi-ancestry

breast cancer, lung cancer

Guo H et al. “A genome-wide cross-cancer meta-analysis highlights the shared genetic links of five solid cancers.” Frontiers in Microbiology 14:1116592 (2023)
Allele A
OR —
p 7.0e-9
N 256,160
Meta-analysisLarge GWAS

type 2 diabetes mellitus

Elashi AA et al. “Genome-wide association study and trans-ethnic meta-analysis identify novel susceptibility loci for type 2 diabetes mellitus.” Bmc Medical Genomics 17(1):115 (2024)
Allele G
OR 0.03
p 5.0e-8
N 6,710,881
Meta-analysisLarge GWAS
multi-ancestry

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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