rs2291120

This is a regulatory region variant variant in the DDB2 gene.

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GWAS Catalog Trait Associations (1)

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 C

OR 0.01

p 2.0e-18

N 5,314,291

Large GWAS

European, Hispanic or Latin American, East Asian, African unspecified, South Asian

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

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Research that mentions this SNP (1)

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Comprehensive pathway‐based interrogation of genetic variations in the nucleotide excision DNA repair pathway and risk of bladder cancer

AssociationN=1,606Jinliang Xing et al.(2012)· Cancer

A comprehensive pathway-based case-control study of 803 bladder cancer cases and 803 controls evaluating 207 SNPs in 26 nucleotide excision repair (NER) pathway genes. Seventeen SNPs were significantly associated with bladder cancer risk at P<0.05, with seven retaining noteworthiness by Bayesian false discovery probability. The most significant finding was rs11132186 in ING2 (OR=0.52, 95% CI 0.32-0.83, P=0.005). Four ING2 variants and two DDB2 variants were significantly associated with altered bladder cancer risk, with evidence for gene-smoking and gene-gene interactions.

Traits studied:Bladder cancer

PubMed DOI Metascience Observatory

About DDB2

This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]