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: rs1199012623
rs1199012623
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0271097
Disease:
Usher Syndrome
G 0.700 CausalMutation CLINVAR Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. 18181211 2008