Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12720458
rs12720458
KCNQ1
G 0.700 GeneticVariation CLINVAR Images in cardiovascular medicine. Himalayan T waves in the congenital long-QT syndrome. 15781747

2005
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: rs12720458
rs12720458
KCNQ1
G 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: rs12720458
rs12720458
KCNQ1
G 0.700 GeneticVariation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
dbSNP: rs12720458
rs12720458
KCNQ1
G 0.700 GeneticVariation CLINVAR Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis. 26546361

2015
dbSNP: rs12720458
rs12720458
KCNQ1
G 0.700 GeneticVariation CLINVAR Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. 27831900

2016
dbSNP: rs12720458
rs12720458
KCNQ1
G 0.700 GeneticVariation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300

2009
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: 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: rs199472815
rs199472815
KCNQ1
A 0.700 GeneticVariation CLINVAR Long QT and Brugada syndrome gene mutations in New Zealand. 17905336

2007
dbSNP: rs199472815
rs199472815
KCNQ1
A 0.700 GeneticVariation CLINVAR Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue. 25453094

2014
dbSNP: rs199472815
rs199472815
KCNQ1
A 0.700 GeneticVariation CLINVAR Following primer redesign to eliminate the possibility of allelic dropout, four previously genotype-negative index cases were found to possess LQTS-causing mutations: R591H-KCNQ1 and R594Q-KCNQ1 for exon 15 and E229X-KCNH2 in two unrelated cases. 16818214

2006
dbSNP: rs199472815
rs199472815
KCNQ1
A 0.700 GeneticVariation CLINVAR Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. 17470695

2007
dbSNP: rs199472815
rs199472815
KCNQ1
A 0.700 GeneticVariation CLINVAR Compound mutations: a common cause of severe long-QT syndrome. 15051636

2004
dbSNP: rs199472815
rs199472815
KCNQ1
A 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: rs199472815
rs199472815
KCNQ1
A 0.700 GeneticVariation CLINVAR A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome. 11530100

2001
dbSNP: rs199472815
rs199472815
KCNQ1
A 0.700 GeneticVariation CLINVAR Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. 14678125

2003
dbSNP: rs199472815
rs199472815
KCNQ1
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: rs199472910
rs199472910
KCNH2
A 0.700 GeneticVariation CLINVAR Impact of Updated Diagnostic Criteria for Long QT Syndrome on Clinical Detection of Diseased Patients: Results From a Study of Patients Carrying Gene Mutations. 29766885

2016
dbSNP: rs199472910
rs199472910
KCNH2
A 0.700 GeneticVariation CLINVAR Q-T peak dispersion in congenital long QT syndrome: possible marker of mutation of HERG. 12808265

2003
dbSNP: rs199472910
rs199472910
KCNH2
A 0.700 GeneticVariation CLINVAR Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote. 27816319

2017
dbSNP: rs199472910
rs199472910
KCNH2
A 0.700 GeneticVariation CLINVAR Congenital long QT syndrome with compound mutations in the KCNH2 gene. 24057343

2014
dbSNP: rs199472910
rs199472910
KCNH2
A 0.700 GeneticVariation CLINVAR Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome. 19843919

2009
dbSNP: rs199473411
rs199473411
KCNQ1
T 0.700 GeneticVariation CLINVAR Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. 9693036

1998