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: C4085590
Disease:
Cone-Rod Dystrophies
A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019