Disease: Leber Congenital Amaurosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515360
rs397515360
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C0339527
Disease:
Leber Congenital Amaurosis 		A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs397515360
rs397515360
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C0339527
Disease:
Leber Congenital Amaurosis 		A 0.700 CausalMutation CLINVAR Genetic basis of total colourblindness among the Pingelapese islanders. 10888875 2000