Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472986
rs199472986
KCNH2
A 0.700 GeneticVariation CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661

2016
dbSNP: rs199472986
rs199472986
KCNH2
A 0.700 GeneticVariation CLINVAR Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. 25417810

2014
dbSNP: rs199472986
rs199472986
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: rs199472986
rs199472986
KCNH2
A 0.700 GeneticVariation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300

2009
dbSNP: rs199472986
rs199472986
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