rs121909205, ABCA4

N. diseases: 2
Disease: Stargardt's disease ×
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 The discovery of a splicing mutation (571: 2A-->G) and missense mutations in the newly identified exons (R18W, R212C) gives additional support to the broad allelic heterogeneity of Stargardt disease. 9503029 1998