Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074193
rs120074193
KCNQ1
A 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs120074193
rs120074193
KCNQ1
A 0.700 CausalMutation CLINVAR A molecular mechanism for adrenergic-induced long QT syndrome. 24184248

2014
dbSNP: rs120074193
rs120074193
KCNQ1
A 0.700 CausalMutation CLINVAR Structural and functional changes in a synthetic S5 segment of KvLQT1 channel as a result of a conserved amino acid substitution that occurs in LQT1 syndrome of human. 20044973

2010
dbSNP: rs120074193
rs120074193
KCNQ1
A 0.700 CausalMutation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300

2009
dbSNP: rs120074193
rs120074193
KCNQ1
A 0.700 CausalMutation CLINVAR Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. 18752142

2008
dbSNP: rs120074193
rs120074193
KCNQ1
A 0.700 CausalMutation 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: rs120074193
rs120074193
KCNQ1
A 0.700 CausalMutation CLINVAR Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland. 15176425

2004
dbSNP: rs120074193
rs120074193
KCNQ1
A 0.700 CausalMutation CLINVAR Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan. 15234419

2004
dbSNP: rs120074193
rs120074193
KCNQ1
A 0.700 CausalMutation CLINVAR KCNQ1 gain-of-function mutation in familial atrial fibrillation. 12522251

2003
dbSNP: rs120074193
rs120074193
KCNQ1
A 0.700 CausalMutation CLINVAR Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome. 12051962

2002
dbSNP: rs120074193
rs120074193
KCNQ1
A 0.700 CausalMutation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000
dbSNP: rs120074193
rs120074193
KCNQ1
A 0.700 CausalMutation CLINVAR Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. 9312006

1997
dbSNP: rs120074193
rs120074193
KCNQ1
A 0.700 CausalMutation CLINVAR KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. 9386136

1997