rs3814113

This is a intergenic variant variant.

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GWAS Catalog Trait Associations (4)

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

malignant epithelial tumor of ovary

Kuchenbaecker KB et al. “Identification of six new susceptibility loci for invasive epithelial ovarian cancer.” Nature Genetics 47(2):164-71 (2015)
Allele G
OR 1.27
p 6.0e-50
N 13,491
Large GWAS
European

breast cancer, ovarian carcinoma

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 T
OR —
p 2.0e-43
N 295,401
Meta-analysisLarge GWAS

ovarian carcinoma

Song H et al. “A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2.” Nature Genetics 41(9):996-1000 (2009)
Allele T
OR 1.22
p 5.0e-19
N 4,170
Large GWAS
European
Couch FJ et al. “Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.” Plos Genetics 9(3):e1003212 (2013)
Allele T
OR 1.30
p 6.0e-11
N 2,727
Large GWAS
European

pulse pressure measurement

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele T
OR 0.12
p 2.0e-10
N 810,865
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (1)

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Ovarian cancer susceptibility alleles and risk of ovarian cancer inBRCA1andBRCA2mutation carriers
AssociationN=14,351Ramus SJ et al.(2012)· Human Mutation

This multi-stage genome-wide association study in 11,705 BRCA1 mutation carriers identified three novel cancer risk-modifying loci: rs2290854 at 1q32 associated with breast cancer (HR=1.14), and rs17631303 (HR=1.27) and rs4691139 (HR=1.20) at 17q21.31 and 4q32.3 respectively associated with ovarian cancer. The 4q32.3 locus showed BRCA1-specific associations. These findings enable improved absolute risk estimation for BRCA1 carriers, with estimated breast cancer lifetime risks ranging from 28-50% for the lowest-risk 5% to 81-100% for the highest-risk 5%.

Traits studied:Breast cancerOvarian cancer
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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