Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472815
rs199472815
A 0.700 GeneticVariation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000

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

2000

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

2007

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

2004

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

2003

dbSNP: rs199472815
rs199472815
A 0.700 GeneticVariation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005