rs12514461

This is a protein-altering variant in the CMYA5 gene.

▶

GWAS Catalog Trait Associations (1)

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

heart rate

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 A

OR 0.06

p 1.0e-35

N 425,748

Major Consortium StudyLarge GWAS

European

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.02

p 2.0e-13

N 394,642

Large GWAS

European

About CMYA5

Predicted to enable identical protein binding activity and protein phosphatase inhibitor activity. Predicted to act upstream of or within negative regulation of calcineurin-NFAT signaling cascade and regulation of skeletal muscle adaptation. Predicted to be located in several cellular components, including costamere; perinuclear region of cytoplasm; and sarcoplasmic reticulum. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

View all CMYA5 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

Loading comments…