rs1051925, PDE6C

N. diseases: 2
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 Genetic sequencing confirmed a homozygous R565Q missense mutation in the catalytic domain of PDE6C, a cone-specific phototransduction enzyme associated with achromatopsia in humans. 30667376 2019