rs752963712, PDE6C

N. diseases: 3
Disease: Achromatopsia 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Achromatopsia 1
CUI: C0302129
Disease: Achromatopsia 1
0.010 GeneticVariation BEFREE Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K). 25605338 2015