Disease: Achromatopsia 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554609946
rs1554609946
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3 		AGTCG 0.700 CausalMutation CLINVAR CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. 28795510 2017