Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6471482
rs6471482
CNGB3
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		T 0.700 CausalMutation CLINVAR CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. 28795510

2017