Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12720441
rs12720441
KCNH2
A 0.700 GeneticVariation CLINVAR Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. 22949429

2012
dbSNP: rs12720441
rs12720441
KCNH2
A 0.700 GeneticVariation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
dbSNP: rs12720441
rs12720441
KCNH2
A 0.700 GeneticVariation CLINVAR Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. 11997281

2002