MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: USHER SYNDROME, TYPE IB (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965083
rs121965083
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1848638
Disease:
USHER SYNDROME, TYPE IB (disorder) 		0.710 GeneticVariation BEFREE Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib. 9843659 1998
dbSNP: rs121965083
rs121965083
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1848638
Disease:
USHER SYNDROME, TYPE IB (disorder) 		A 0.710 CausalMutation CLINVAR