MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: Usher syndrome, type 1B ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77625410
rs77625410
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C2931206
Disease:
Usher syndrome, type 1B 		0.010 GeneticVariation BEFREE Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C. 17960123 2007