rs139344379
This is a intron variant variant in the RMND5A 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.
hypertrophic cardiomyopathy
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 3.21
p 1.0e-11
N 572,697
Major Consortium StudyLarge GWAS
multi-ancestry
About RMND5A
Predicted to enable ubiquitin protein ligase activity and zinc ion binding activity. Predicted to contribute to ubiquitin-protein transferase activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process and protein polyubiquitination. Located in cytoplasm and nucleoplasm. Part of ubiquitin ligase complex. [provided by Alliance of Genome Resources, Jul 2025]
View all RMND5A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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