rs104893967, GUCA1A

N. diseases: 5
Disease: Progressive Cone Dystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Progressive Cone Dystrophy
CUI: C3665342
Disease: Progressive Cone Dystrophy
0.010 GeneticVariation BEFREE The Tyr99Cys GUCA1A mutation has been previously shown to cause autosomal dominant progressive cone dystrophy. 15953638 2005