rs34289250

This is a intron variant variant in the BRIP1 gene.

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GWAS Catalog Trait Associations (1)

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

ovarian carcinoma

Rafnar T et al. “Mutations in BRIP1 confer high risk of ovarian cancer.” Nature Genetics 43(11):1104-7 (2011)

Allele C

OR 7.95

p 6.0e-13

N 42,247

Large GWAS

European

About BRIP1

The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008]

View all BRIP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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