Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074179
rs120074179
A 0.710 CausalMutation CLINVAR Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome. 22456477

2012

dbSNP: rs120074179
rs120074179
A 0.710 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: rs120074179
rs120074179
A 0.710 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: rs120074179
rs120074179
A 0.710 CausalMutation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005

dbSNP: rs120074179
rs120074179
A 0.710 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: rs120074179
rs120074179
A 0.710 CausalMutation CLINVAR Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 15466642

2004

dbSNP: rs120074179
rs120074179
A 0.710 CausalMutation CLINVAR The second mutation, V254M in KCNQ1, co-segregated with higher QT intervals and symptoms in other family members, and was previously reported in another LQTS family. 12820704

2003

dbSNP: rs120074179
rs120074179
0.710 GeneticVariation BEFREE The second mutation, V254M in KCNQ1, co-segregated with higher QT intervals and symptoms in other family members, and was previously reported in another LQTS family. 12820704

2003

dbSNP: rs120074179
rs120074179
A 0.710 CausalMutation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000

dbSNP: rs120074179
rs120074179
A 0.710 CausalMutation CLINVAR Functional effects of mutations in KvLQT1 that cause long QT syndrome. 10376919

1999

dbSNP: rs120074179
rs120074179
A 0.710 CausalMutation CLINVAR KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. 9386136

1997

dbSNP: rs120074179
rs120074179
A 0.710 CausalMutation CLINVAR Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. 8528244

1996

dbSNP: rs120074179
rs120074179
A 0.710 GeneticVariation CLINVAR