Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794728530
rs794728530
KCNQ1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs794728846
rs794728846
SCN5A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs199473411
rs199473411
KCNQ1
T 0.700 GeneticVariation CLINVAR Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 9024139

1997
dbSNP: rs74315445
rs74315445
KCNE1
T 0.700 GeneticVariation CLINVAR KCNE1 mutations cause jervell and Lange-Nielsen syndrome. 9354783

1997
dbSNP: rs74315445
rs74315445
KCNE1
T 0.700 GeneticVariation CLINVAR Mutations in the hminK gene cause long QT syndrome and suppress IKs function. 9354802

1997
dbSNP: rs199473411
rs199473411
KCNQ1
T 0.700 GeneticVariation CLINVAR Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. 9693036

1998
dbSNP: rs74315445
rs74315445
KCNE1
T 0.700 GeneticVariation CLINVAR Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome. 9445165

1998
dbSNP: rs137854601
rs137854601
SCN5A
T 0.700 CausalMutation CLINVAR Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. 10377081

1999
dbSNP: rs199473428
rs199473428
KCNH2
T 0.700 GeneticVariation CLINVAR Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects. 10483966

1999
dbSNP: rs199473456
rs199473456
KCNQ1
T 0.700 GeneticVariation CLINVAR Low penetrance in the long-QT syndrome: clinical impact. 9927399

1999
dbSNP: rs397508118
rs397508118
KCNQ1
G 0.700 CausalMutation CLINVAR Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome. 10560595

1999
dbSNP: rs397508118
rs397508118
KCNQ1
G 0.700 CausalMutation CLINVAR Jervell and Lange-Nielsen syndrome: a Norwegian perspective. 10704188

1999
dbSNP: rs199472936
rs199472936
KCNH2
0.010 GeneticVariation BEFREE We recently reported a novel missense mutation of HERG (G601S) in an LQTS family that we have characterized in the present work. 10226095

1999
dbSNP: rs137854601
rs137854601
SCN5A
T 0.700 CausalMutation CLINVAR Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. 10727653

2000
dbSNP: rs199472815
rs199472815
KCNQ1
A 0.700 GeneticVariation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000
dbSNP: rs199472815
rs199472815
KCNQ1
A 0.700 GeneticVariation CLINVAR Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen. 11140949

2000
dbSNP: rs199472990
rs199472990
KCNH2
A 0.700 CausalMutation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000
dbSNP: rs199472990
rs199472990
KCNH2
A 0.700 CausalMutation CLINVAR Novel characteristics of a misprocessed mutant HERG channel linked to hereditary long QT syndrome. 11009462

2000
dbSNP: rs199473394
rs199473394
KCNQ1
A 0.700 CausalMutation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000
dbSNP: rs199473411
rs199473411
KCNQ1
T 0.700 GeneticVariation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000
dbSNP: rs199473428
rs199473428
KCNH2
T 0.700 GeneticVariation CLINVAR Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects. 10862094

2000
dbSNP: rs199473456
rs199473456
KCNQ1
T 0.700 GeneticVariation CLINVAR Mechanisms of I(Ks) suppression in LQT1 mutants. 11087258

2000
dbSNP: rs199473456
rs199473456
KCNQ1
T 0.700 GeneticVariation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000
dbSNP: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000
dbSNP: rs199472719
rs199472719
KCNQ1
0.010 GeneticVariation BEFREE The novel KCNQ1 mutation R259C is the molecular basis for I(Ks) dysfunction underlying an apparently sporadic case of hypokalemia-induced LQTS, consistent with a mild mutation likely to disclose the clinical manifestation of LQTS in a context of severe hypokalemia. 11021476

2000