Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912776
rs121912776
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C2678478
Disease:
Brugada Syndrome 3
T 0.700 CausalMutation CLINVAR Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. 17224476 2007