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

2014
dbSNP: rs199473456
rs199473456
KCNQ1
T 0.700 GeneticVariation CLINVAR Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. 24606995

2014
dbSNP: rs74315445
rs74315445
KCNE1
T 0.700 GeneticVariation CLINVAR Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. 24606995

2014
dbSNP: rs74315445
rs74315445
KCNE1
T 0.700 GeneticVariation CLINVAR Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome. 24561134

2014
dbSNP: rs12720458
rs12720458
KCNQ1
G 0.700 GeneticVariation CLINVAR Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. 23392653

2013
dbSNP: rs199472990
rs199472990
KCNH2
A 0.700 CausalMutation CLINVAR An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. 23303164

2013
dbSNP: rs199473394
rs199473394
KCNQ1
A 0.700 CausalMutation CLINVAR Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. 23392653

2013
dbSNP: rs199473456
rs199473456
KCNQ1
T 0.700 GeneticVariation CLINVAR Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing. 22727609

2013
dbSNP: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 23631430

2013
dbSNP: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. 23303164

2013
dbSNP: rs397508118
rs397508118
KCNQ1
G 0.700 CausalMutation CLINVAR Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 23631430

2013
dbSNP: rs74315445
rs74315445
KCNE1
T 0.700 GeneticVariation CLINVAR Modification by KCNE1 variants of the hERG potassium channel response to premature stimulation and to pharmacological inhibition. 24400172

2013
dbSNP: rs794728879
rs794728879
SCN5A
G 0.700 GeneticVariation CLINVAR Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 23631430

2013
dbSNP: rs12720458
rs12720458
KCNQ1
G 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: rs199472990
rs199472990
KCNH2
A 0.700 CausalMutation CLINVAR Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. 23098067

2012
dbSNP: rs199473411
rs199473411
KCNQ1
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: rs199473428
rs199473428
KCNH2
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: rs199473456
rs199473456
KCNQ1
T 0.700 GeneticVariation CLINVAR Genotype- and Sex-Specific QT-RR Relationship in the Type-1 Long-QT Syndrome. 23130128

2012
dbSNP: rs199473456
rs199473456
KCNQ1
T 0.700 GeneticVariation CLINVAR Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome. 22456477

2012
dbSNP: rs199473456
rs199473456
KCNQ1
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: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome. 23158531

2012
dbSNP: rs397508118
rs397508118
KCNQ1
G 0.700 CausalMutation CLINVAR Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden. 22539601

2012
dbSNP: rs137854601
rs137854601
SCN5A
T 0.700 CausalMutation CLINVAR Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. 21321465

2011
dbSNP: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR Mutation and gender-specific risk in type 2 long QT syndrome: implications for risk stratification for life-threatening cardiac events in patients with long QT syndrome. 21440677

2011
dbSNP: rs151344631
rs151344631
KCNQ1
A 0.700 CausalMutation CLINVAR Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs. 20421371

2010