Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516326
rs397516326
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		T 0.700 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs397516326
rs397516326
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		T 0.700 CausalMutation CLINVAR Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276

2012
dbSNP: rs397516326
rs397516326
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		T 0.700 CausalMutation CLINVAR Four-year follow-up of diagnostic service in USH1 patients. 21436283

2011