rs9288539
This is a intron variant variant in the NHEJ1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
duodenal ulcer
He Y et al. “East Asian-specific and cross-ancestry genome-wide meta-analyses provide mechanistic insights into peptic ulcer disease.” Nature Genetics 55(12):2129-2138 (2023)
Allele A
OR 0.09
p 2.0e-9
N 252,639
Large GWAS
East Asian
About NHEJ1
Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq, Jul 2008]
View all NHEJ1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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