rs7470279
This is a intron variant variant in the GNAQ 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 T
OR 0.09
p 2.0e-10
N 884,325
Large GWAS
multi-ancestry
About GNAQ
This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010]
View all GNAQ variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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