rs8170

This is a synonymous variant in the BABAM1 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (2)

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 A
OR 1.18
p 5.0e-14
N 13,491
Large GWAS
European

breast carcinoma

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 G
OR 1.19
p 4.0e-13
N 2,727
Large GWAS
European
Garcia-Closas M et al. “Genome-wide association studies identify four ER negative-specific breast cancer risk loci.” Nature Genetics 45(4):392-8, 398e1-2 (2013)
Allele G
OR 1.15
p 9.0e-13
N 39,387
Large GWAS
European
Antoniou AC et al. “A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.” Nature Genetics 42(10):885-92 (2010)
Allele G
OR 1.26
p 2.0e-9
N 2,383
Large GWAS
European
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Research that mentions this SNP (2)

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Associations of polymorphisms in the genes of FGFR2, FGF1, and RBFOX2 with breast cancer risk by estrogen/progesterone receptor status
AssociationN=2,416Yu‐Ling Cen et al.(2013)· Molecular Carcinogenesis

A hospital-based case-control study in rural and urban India (1,204 cases; 1,212 controls) examined genetic and lifestyle risk factors for breast cancer. Four SNPs in FGFR2 (rs1219648, rs2420946, rs2981575, rs2981582) showed positive associations with breast cancer (ORs 1.32-1.47). Additional SNPs in obesity and metabolic genes (rs374748 in FBN2, rs2922763 in HNF4G, rs2116830 in KCNMA1, rs11121832 in MTHFR, rs16886165 in MAP3K1, rs11594610 in TCF7L2, rs2274459 in MLN) were associated with increased breast cancer risk. Waist-to-hip ratio ≥0.95 showed strong association (OR 3.78; 95% CI 2.92-4.89), and women living first 20 years in rural areas showed protective effect (OR 0.77).

Traits studied:Breast cancerBreast cancer riskER+/PR+ breast cancerER/PR negative breast cancerTriple negative breast cancer
PubMedDOIMetascience Observatory
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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 BABAM1

Enables identical protein binding activity. Involved in several processes, including DNA repair-dependent chromatin remodeling; mitotic G2 DNA damage checkpoint signaling; and positive regulation of DNA repair. Located in cytosol and nuclear body. Part of BRCA1-A complex and BRISC complex. [provided by Alliance of Genome Resources, Jul 2025]

View all BABAM1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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