rs9610482

This variant is located in the MYH9 gene.

GWAS Catalog Trait Associations (3)

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

platelet count

Allele T
OR
p 4.0e-12
N 721,201
Large GWAS
multi-ancestry

Uterine leiomyoma

Allele T
OR 1.06
p 1.0e-9
N 367,903
Large GWAS
European

uterine fibroid

Allele T
OR 0.05
p 5.0e-9
N 434,152
Meta-analysisLarge GWAS
European

About MYH9

This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]

View all MYH9 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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