MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033201
rs111033201
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0271097
Disease:
Usher Syndrome
T 0.700 CausalMutation CLINVAR Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome. 9718356 1998