rs911263

This is a regulatory region variant variant in the RAD51B gene.

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GWAS Catalog Trait Associations (5)

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

asthma

Han Y et al. “Genome-wide analysis highlights contribution of immune system pathways to the genetic architecture of asthma.” Nature Communications 11(1):1776 (2020)
Allele C
OR —
p 5.0e-20
N 536,345
Large GWAS
multi-ancestry

biliary liver cirrhosis

Mells GF et al. “Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.” Nature Genetics 43(4):329-32 (2011)
Allele T
OR 1.29
p 2.0e-11
N 7,003
Large GWAS
European

primary biliary cirrhosis

Liu JZ et al. “Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.” Nature Genetics 44(10):1137-41 (2012)
Allele A
OR 1.26
p 1.0e-10
N 11,375
Large GWAS
European
Cordell HJ et al. “International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.” Nature Communications 6:8019 (2015)
Allele A
OR 1.24
p 2.0e-9
N 13,239
Meta-analysisLarge GWAS
European

rheumatoid arthritis

Kim K et al. “High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci.” Annals of the Rheumatic Diseases 74(3):e13 (2015)
Allele A
OR 1.11
p 3.0e-8
N 55,089
Large GWAS
multi-ancestry

type 1 diabetes mellitus

Robertson CC et al. “Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.” Nature Genetics 53(7):962-971 (2021)
Allele T
OR 1.08
p 3.0e-8
N 59,527
Large GWAS
multi-ancestry

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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