rs11624333

This variant is located in the RAD51B gene.

GWAS Catalog Trait Associations (2)

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

breast carcinoma

Michailidou K et al. Association analysis identifies 65 new breast cancer risk loci. Nature 551(7678):92-94 (2017)
Allele C
OR 0.10
p 7.0e-42
N 139,274
Large GWAS
multi-ancestry
Allele C
OR 1.09
p 4.0e-11
N 428,231
Large GWAS
European
Allele C
OR 0.90
p 2.0e-13
N 197,244
Large GWAS
European

cancer

Allele T
OR 1.08
p 5.0e-8
N 475,312
Large GWAS
European

ClinVar annotation

Benign☆☆☆
1 submitter
View on ClinVar →

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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