Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1343191564
rs1343191564
CACNA1C ; CACNA1C-AS1
0.010 GeneticVariation BEFREE Here, we functionally analyzed p.S1961N Cav1.2 channels to elucidate whether this mutation regulates the expressivity of the long QT syndrome phenotype in this family. 29691127

2019