Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62642583
rs62642583
RPE65
G 0.700 CausalMutation CLINVAR Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. 28181551

2017
dbSNP: rs62642583
rs62642583
RPE65
G 0.700 CausalMutation CLINVAR Mutation analysis of 3 genes in patients with Leber congenital amaurosis. 10766140

2000