Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1279918132
rs1279918132
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		T 0.700 CausalMutation CLINVAR Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. 16470552

2006
dbSNP: rs1279918132
rs1279918132
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		T 0.700 CausalMutation CLINVAR Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. 12112664

2002