Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199473411
rs199473411
T 0.700 GeneticVariation CLINVAR KCNQ1 long QT syndrome patients have hyperinsulinemia and symptomatic hypoglycemia. 24357532

2014

dbSNP: rs199473411
rs199473411
T 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: rs199473411
rs199473411
T 0.700 GeneticVariation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300

2009

dbSNP: rs199473411
rs199473411
T 0.700 GeneticVariation CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085

2009

dbSNP: rs199473411
rs199473411
T 0.700 GeneticVariation CLINVAR Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations. 16556865

2006

dbSNP: rs199473411
rs199473411
T 0.700 GeneticVariation CLINVAR Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 15466642

2004

dbSNP: rs199473411
rs199473411
T 0.700 GeneticVariation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000

dbSNP: rs199473411
rs199473411
T 0.700 GeneticVariation CLINVAR Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. 9693036

1998

dbSNP: rs199473411
rs199473411
T 0.700 GeneticVariation CLINVAR Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 9024139

1997