rs999737

This is a intron variant variant in the RAD51B gene.

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GWAS Catalog Trait Associations (3)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele T
OR 0.01
p 3.0e-43
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

breast carcinoma

Michailidou K et al. “Association analysis identifies 65 new breast cancer risk loci.” Nature 551(7678):92-94 (2017)
Allele C
OR 1.10
p 7.0e-39
N 139,274
Large GWAS
multi-ancestry
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 C
OR 0.91
p 1.0e-38
N 277,932
Large GWAS
multi-ancestry
Michailidou K et al. “Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.” Nature Genetics 47(4):373-80 (2015)
Allele C
OR 1.09
p 2.0e-21
N 33,832
Large GWAS
European
Michailidou K et al. “Large-scale genotyping identifies 41 new loci associated with breast cancer risk.” Nature Genetics 45(4):353-61, 361e1-2 (2013)
Allele C
OR 1.09
p 3.0e-19
N 22,627
Large GWAS
European

estrogen-receptor negative breast cancer

Milne RL et al. “Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.” Nature Genetics 49(12):1767-1778 (2017)
Allele C
OR 1.09
p 3.0e-8
N 72,261
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →
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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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Fine mapping of 14q24.1 breast cancer susceptibility locus
AssociationN=11,268Phoebe Lee et al.(2012)· Human Genetics

This fine-mapping study analyzed the 14q24.1 breast cancer susceptibility locus using imputation in 5,692 cases and 5,576 controls from the CGEMS GWAS. The SNP rs999737 (OR=0.87, 95% CI=0.81-0.92, p=8.23×10⁻⁶) remained the strongest tag SNP for common variants in the RAD51L1 region, with no evidence for independent additional signals. Single-marker and haplotype analyses confirmed rs999737 as the optimal marker for this locus.

Traits studied:Breast cancerEstrogen receptor positive breast cancerProgesterone receptor positive breast cancer
PubMedDOIMetascience Observatory

About RAD51B

The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [provided by RefSeq, Mar 2016]

View all RAD51B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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