Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074192
rs120074192
0.030 GeneticVariation BEFREE We have investigated mechanisms by which the S1 domain S140G KCNQ1 mutation influences atrial arrhythmia risk and, additionally, whether it can affect ventricular electrophysiology. 24411289

2014

dbSNP: rs120074192
rs120074192
0.030 GeneticVariation BEFREE In conclusion, increased I(Ks) due to the KCNQ1 S140G mutation increases atrial susceptibility to arrhythmia due to increased tissue vulnerability, shortened ERP and altered atrial conduction velocity, which, in combination, facilitate initiation and maintenance of re-entrant excitation waves. 22508963

2012

dbSNP: rs120074192
rs120074192
0.030 GeneticVariation BEFREE The purpose of this study was to further explore the association of the KCNQ1 S140G mutation with cardiac arrhythmias. 17467630

2007

dbSNP: rs1800172
rs1800172
0.020 GeneticVariation BEFREE Our data suggest that use of NPSs, particularly synthetic cathinones, is associated with elevated risk of serious cardiac arrhythmia and sudden death for subjects carrying KCNQ1 G643S. 29855564

2018

dbSNP: rs1800172
rs1800172
0.020 GeneticVariation BEFREE Our present study suggests that administering psychotropic drug therapy to individuals carrying the G643S polymorphism may heighten the risk of prolonged QT intervals and life-threatening arrhythmias. 24284363

2014

dbSNP: rs120074195
rs120074195
0.010 GeneticVariation BEFREE This study further substantiates a causal link between the V307L KCNQ1 mutation and pro-arrhythmia in human ventricles, and establishes partial inhibition of I<sub>Ks</sub> as a potential anti-arrhythmic strategy in SQT2. 28814790

2017

dbSNP: rs199472708
rs199472708
0.010 GeneticVariation BEFREE (Heart Rhythm 11:67-75, 2014) to fit the behavior of I Ks due to the G229D mutation in KCNQ1 under a heterozygous mutant form. 26922794

2016

dbSNP: rs199473405
rs199473405
0.010 GeneticVariation BEFREE Arrhythmia formation in subclinical ("silent") long QT syndrome requires multiple insults: quantitative mechanistic study using the KCNQ1 mutation Q357R as example. 21952006

2012

dbSNP: rs1057128
rs1057128
0.010 GeneticVariation BEFREE The frequency of KCNQ1 1638G>A, as well as the haplotype harboring KCNQ1 1638A, KCNQ1 1685 + 23G and 1732 + 43T (haplotype AGT) was significantly higher in healthy controls than in arrhythmia patients. 18426444

2008

dbSNP: rs1415058026
rs1415058026
0.010 GeneticVariation BEFREE KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties. 17341397

2007

dbSNP: rs199472762
rs199472762
0.010 GeneticVariation BEFREE A novel mutation (P343S) identified in the KCNQ1 subunit gene of three members of a RWS family showed a dominant-negative effect on native IKs currents leading to prolongation of the heart repolarisation and possibly increases the risk of malign arrhythmias with sudden cardiac death. 15511625

2004

dbSNP: rs199473401
rs199473401
0.010 GeneticVariation BEFREE Inderal or propanolol (a beta blocker) appears to be effective in preventing arrhythmias and syncope for an LQTS patient with the KCNQ1 L191P mutation. 12442276

2002