rs121912560

This is a variant in the MYO6 gene that changes a histidine to an arginine.

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GWAS Catalog Trait Associations (2)

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

able to hear with hearing aids

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 G

OR 5.48

p 2.0e-10

N 78,848

Large GWAS

European

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 G

OR 3.73

p 2.0e-12

N 142,103

Large GWAS

European

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ClinVar annotation

Pathogenic★★★☆

4 submitters5 publications

Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome; Rare genetic deafness

View on ClinVar →

About MYO6

This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. This protein maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]