Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1762111
rs1762111
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
G 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019

dbSNP: rs1762111
rs1762111
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
G 0.700 GeneticVariation CLINVAR Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 9295268

1997