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: rs199473317
rs199473317
SCN5A
0.010 GeneticVariation BEFREE D1790G, a mutation of SCN5A, the gene that encodes the human Na(+) channel alpha-subunit, is linked to 1 form of the congenital long-QT syndrome (LQT-3). 10920073

2000
dbSNP: rs151344631
rs151344631
KCNQ1
A 0.700 CausalMutation CLINVAR A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact. 18580685

2008
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: rs397508118
rs397508118
KCNQ1
G 0.700 CausalMutation CLINVAR A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome. 11530100

2001
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: rs199473394
rs199473394
KCNQ1
A 0.700 CausalMutation CLINVAR Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. 27831900

2016
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: 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: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR Analysis of the cyclic nucleotide binding domain of the HERG potassium channel and interactions with KCNE2. 11278781

2001
dbSNP: rs199472990
rs199472990
KCNH2
A 0.700 CausalMutation CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661

2016
dbSNP: rs199473538
rs199473538
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: rs794728568
rs794728568
KCNQ1
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: rs199473394
rs199473394
KCNQ1
A 0.700 CausalMutation CLINVAR Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia. 28944242

2017
dbSNP: rs199473411
rs199473411
KCNQ1
T 0.700 GeneticVariation CLINVAR Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations. 16556865

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: 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: 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: 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: rs199473456
rs199473456
KCNQ1
T 0.700 GeneticVariation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
dbSNP: rs74315445
rs74315445
KCNE1
T 0.700 GeneticVariation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
dbSNP: rs397508120
rs397508120
KCNQ1
C 0.700 GeneticVariation CLINVAR Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome. 12051962

2002
dbSNP: rs199472815
rs199472815
KCNQ1
A 0.700 GeneticVariation CLINVAR Compound mutations: a common cause of severe long-QT syndrome. 15051636

2004
dbSNP: rs199473394
rs199473394
KCNQ1
A 0.700 CausalMutation CLINVAR Compound mutations: a common cause of severe long-QT syndrome. 15051636

2004