PDE6C, phosphodiesterase 6C, 5146

N. diseases: 37; N. variants: 30
Disease: Achromatopsia 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752963712
rs752963712
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
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