Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775796581
rs775796581
CNGB3
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		T 0.700 CausalMutation CLINVAR Genetic basis of total colourblindness among the Pingelapese islanders. 10888875

2000