rs1762111, ABCA4

N. diseases: 5
Disease: Retinal Dystrophies ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
0.700 GeneticVariation CLINVAR Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 9295268 1997