rs11589562

This is a intron variant variant in the MAST2 gene.

GWAS Catalog Trait Associations (1)

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

hearing loss

Cornejo-Sanchez DM et al. Rare-variant association analysis reveals known and new age-related hearing loss genes. European Journal of Human Genetics : Ejhg 31(6):638-647 (2023)
Allele C
OR 0.05
p 2.0e-8
N 142,103
Large GWAS
European

About MAST2

Enables phosphatase binding activity. Predicted to be involved in several processes, including protein phosphorylation; regulation of interleukin-12 production; and spermatid differentiation. Predicted to be located in cytoplasm; cytoskeleton; and plasma membrane. Predicted to be active in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Jul 2025]

View all MAST2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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