rs199683808, RPE65

N. diseases: 1
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 A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation. 18599565 2008