rs8100241

This is a protein-altering variant in the ANKLE1 gene.

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GWAS Catalog Trait Associations (1)

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

breast carcinoma

Siddiq A et al. “A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.” Human Molecular Genetics 21(24):5373-84 (2012)
Allele G
OR 1.14
p 4.0e-8
N 36,278
Meta-analysisLarge GWAS
multi-ancestry
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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

About ANKLE1

Enables endonuclease activity. Involved in DNA damage response and protein export from nucleus. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

View all ANKLE1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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