Disease: Progressive Cone Dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147876778
rs147876778
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C3665342
Disease:
Progressive Cone Dystrophy 		0.020 GeneticVariation BEFREE However, a small number of patients carrying the CNGB3/c.1208G>A;p.R403Q mutation present with a variable retinal phenotype ranging from complete and incomplete achromatopsia to moderate cone dysfunction or progressive cone dystrophy. 30418171 2018
dbSNP: rs147876778
rs147876778
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C3665342
Disease:
Progressive Cone Dystrophy 		0.020 GeneticVariation BEFREE In this study, a novel Arg403Gln mutation was identified, located in the middle of the pore domain of the cone CNG cation channel beta-subunit, which when associated with the nonsense mutation Thr383fs, resulted in progressive cone dystrophy. 15161866 2004