rs113721385

This variant is located in the MYO15A gene.

GWAS Catalog Trait Associations (2)

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

smoking initiation

Saunders GRB et al. Genetic diversity fuels gene discovery for tobacco and alcohol use. Nature 612(7941):720-724 (2022)
Allele T
OR 0.01
p 4.0e-19
N 3,382,012
Large GWAS
European, East Asian, Hispanic or Latin American, African unspecified

alcohol consumption quality

Saunders GRB et al. Genetic diversity fuels gene discovery for tobacco and alcohol use. Nature 612(7941):720-724 (2022)
Allele T
OR 0.01
p 2.0e-9
N 2,965,643
Large GWAS
European, East Asian, Hispanic or Latin American, African unspecified

About MYO15A

This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]

View all MYO15A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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