Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472815
rs199472815
KCNQ1
A 0.700 CausalMutation 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 CausalMutation CLINVAR In utero diagnosis of long QT syndrome by magnetocardiography. 24218437

2013
dbSNP: rs199472815
rs199472815
KCNQ1
A 0.700 CausalMutation CLINVAR Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner. 22199116

2012
dbSNP: rs199472815
rs199472815
KCNQ1
A 0.700 CausalMutation CLINVAR Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals. 21185501

2011
dbSNP: rs199472815
rs199472815
KCNQ1
A 0.700 CausalMutation CLINVAR Ion channel mechanisms related to sudden cardiac death in phenotype-negative long-QT syndrome genotype-phenotype correlations of the KCNQ1(S349W) mutation. 20662986

2011
dbSNP: rs199472815
rs199472815
KCNQ1
A 0.700 CausalMutation 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 CausalMutation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300

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

2007
dbSNP: rs199472815
rs199472815
KCNQ1
A 0.700 CausalMutation CLINVAR Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results. 16818214

2006
dbSNP: rs199472815
rs199472815
KCNQ1
A 0.700 CausalMutation 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 CausalMutation CLINVAR Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1). 15935335

2005
dbSNP: rs199472815
rs199472815
KCNQ1
A 0.700 CausalMutation CLINVAR Compound mutations: a common cause of severe long-QT syndrome. 15051636

2004
dbSNP: rs199472815
rs199472815
KCNQ1
A 0.700 CausalMutation CLINVAR DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. 12402336

2002
dbSNP: rs199472815
rs199472815
KCNQ1
A 0.700 CausalMutation 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 CausalMutation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

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

2000