rs201471607, ABCA4

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Stargardt's disease
CUI: C0271093
Disease: Stargardt's disease
0.010 GeneticVariation BEFREE Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration. 29145636 2018