rs2593619
This is a intron variant variant in the USP34 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.
Brugada syndrome
Ishikawa T et al. “Brugada syndrome in Japan and Europe: a genome-wide association study reveals shared genetic architecture and new risk loci.” European Heart Journal 45(26):2320-2332 (2024)
Allele G
OR 1.19
p 7.0e-9
N 15,395
Large GWAS
multi-ancestry
About USP34
Enables cysteine-type deubiquitinase activity and cysteine-type endopeptidase activity. Involved in positive regulation of canonical Wnt signaling pathway and protein K48-linked deubiquitination. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Jul 2025]
View all USP34 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…