rs1049458

This is a 3 prime utr variant variant in the RMND5A gene.

GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

erythrocyte volume

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 C
OR 0.03
p 6.0e-18
N 583,955
Major Consortium StudyLarge GWAS
multi-ancestry

mean corpuscular hemoglobin concentration

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 C
OR 0.04
p 8.0e-41
N 407,342
Major Consortium StudyLarge GWAS
European

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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