PDE6H, phosphodiesterase 6H, 5149

N. diseases: 12; N. variants: 1
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200311463
rs200311463
Entrez Id: 5149;105369670
Gene Symbol: PDE6H;LOC105369670
PDE6H;LOC105369670
CUI: C0152200
Disease:
Achromatopsia 		G 0.710 CausalMutation CLINVAR
dbSNP: rs200311463
rs200311463
Entrez Id: 5149;105369670
Gene Symbol: PDE6H;LOC105369670
PDE6H;LOC105369670
CUI: C1864900
Disease:
Retinal Cone Dystrophy 3A 		G 0.700 CausalMutation CLINVAR
dbSNP: rs200311463
rs200311463
Entrez Id: 5149;105369670
Gene Symbol: PDE6H;LOC105369670
PDE6H;LOC105369670
CUI: C3552227
Disease:
ACHROMATOPSIA 6 		G 0.700 CausalMutation CLINVAR
dbSNP: rs200311463
rs200311463
Entrez Id: 5149;105369670
Gene Symbol: PDE6H;LOC105369670
PDE6H;LOC105369670
CUI: C0339537
Disease:
Cone monochromatism 		G 0.700 CausalMutation CLINVAR