Disease: Cone Dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs117522010
rs117522010
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3
CUI: C0730290
Disease:
Cone Dystrophy 		A 0.700 GeneticVariation CLINVAR Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. 18521937 2008
dbSNP: rs146195955
rs146195955
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3
CUI: C0730290
Disease:
Cone Dystrophy 		C 0.700 GeneticVariation CLINVAR