rs397517025
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs587782927
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs727504432
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs868789318
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs121912512
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three asymptomatic family members were heterozygous for R752Q, and the proband, who manifested ventricular tachycardia in utero, was homozygous.
|
12621127 |
2003 |
rs104894585
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In three of five T75R-Tg mice with ventricular tachycardia, their ECG disclosed bidirectional tachycardia as in our proband.
|
16571646 |
2006 |
rs730880179
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The third substitution (Q59L) was detected in two ARVD probands with ventricular tachycardias, ECG abnormalities and right ventricular structural alterations.
|
17521752 |
2008 |
rs104894585
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In this study, we characterized the KCNJ2 channels with an ATS mutation (T75M) which is associated with cardiac phenotypes of bi-directional ventricular tachycardia, syncope, and QT(c) prolongation.
|
17582433 |
2007 |
rs199472954
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a novel hERG/F627L mutation that results in LQTS with fetal onset of atrioventricular block and ventricular tachycardia.
|
18848812 |
2008 |
rs199473039
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a novel hERG/F627L mutation that results in LQTS with fetal onset of atrioventricular block and ventricular tachycardia.
|
18848812 |
2008 |
rs199473556
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a case of a young male with a novel SCN5A mutation (R121W) afflicted by sick sinus syndrome, progressive cardiac conduction disorder, atrial flutter and ventricular tachycardia.
|
20395683 |
2010 |
rs1036553117
|
|
|
0.010 |
GeneticVariation |
BEFREE |
DSP T1373A was found in 1 proband with typical right ventricular disease and exercise-related ventricular tachycardia.
|
21397041 |
2011 |
rs200745877
|
|
|
0.010 |
GeneticVariation |
BEFREE |
DSP T1373A was found in 1 proband with typical right ventricular disease and exercise-related ventricular tachycardia.
|
21397041 |
2011 |
rs4784379
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among the 37 suggestive pair-wise interactions with p-value less than 10(-8), one was further shown to involve two SNPs, rs9804128 (IGFS21 locus) and rs4784379 (IRX3 locus) that demonstrated significant interactive effects (p = 4.83 10(-5)) on the variability of plasma Factor VIII levels, a quantitative biomarker of VT risk, in a sample of 1,091 VT patients.
|
23509962 |
2013 |
rs3825214
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To assess the association between rs3825214 and AF and VT, we carried out case-control association studies with 692 AF patients (including 275 lone AF patients), 235 VT patients, and 856 controls.
|
23717681 |
2013 |
rs199473244
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report identification and functional characterization of a rare non-synonymous (p.A1427S) variant in the SCN5A gene that was associated with incessant and lethal ventricular tachycardia and fibrillation after administration of lidocaine to a patient with acute myocardial infarction.
|
24445991 |
2014 |
rs200034939
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report identification and functional characterization of a rare non-synonymous (p.A1427S) variant in the SCN5A gene that was associated with incessant and lethal ventricular tachycardia and fibrillation after administration of lidocaine to a patient with acute myocardial infarction.
|
24445991 |
2014 |
rs374090960
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified nonsynonymous variants in 4 patients, including a rare missense p.R397Q mutation in the KCNQ1 gene in a 60-year-old man who presented with incessant VT and had mild cardiac dysfunction.
|
25616976 |
2015 |
rs3766871
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study identifies a significant role of RyR2 rs3766871 minor allele for increased susceptibility to VT/VF in a population of ICD patients with HF.
|
25773045 |
2015 |
rs374528680
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we identified a novel mechanism of VT resulted from enhanced repolarization dispersion which is a key factor for arrhythmias in the CACNA1C G1911R mutation using multi-scale computational models of the human ventricle.
|
27502440 |
2016 |
rs137854539
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the DISCOVERY trial, genotypes of 2 SNPs in the GNAS gene were nominally significant in the prospective screening and significantly associated with VT when viewed as recessive traits in post hoc analyses (TT vs CC/CT in c.393C>T: HR 1.42 [CI 1.11-1.80], P=0.005; TT vs CC/CT in c.2273C>T: HR 1.57 [CI 1.18-2.09], P=0.002).
|
27895044 |
2016 |
rs7121
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the DISCOVERY trial, genotypes of 2 SNPs in the GNAS gene were nominally significant in the prospective screening and significantly associated with VT when viewed as recessive traits in post hoc analyses (TT vs CC/CT in c.393C>T: HR 1.42 [CI 1.11-1.80], P=0.005; TT vs CC/CT in c.2273C>T: HR 1.57 [CI 1.18-2.09], P=0.002).
|
27895044 |
2016 |
rs757110000
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the DISCOVERY trial, genotypes of 2 SNPs in the GNAS gene were nominally significant in the prospective screening and significantly associated with VT when viewed as recessive traits in post hoc analyses (TT vs CC/CT in c.393C>T: HR 1.42 [CI 1.11-1.80], P=0.005; TT vs CC/CT in c.2273C>T: HR 1.57 [CI 1.18-2.09], P=0.002).
|
27895044 |
2016 |
rs1460922
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we observed that rs1460922 of <i>FGF12</i> was significantly associated with VT and identified that a de novo variation of <i>FGF12</i> may be an important genetic risk factor for the pathogenesis of VT.
|
28775062 |
2017 |
rs17852067
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The result of western blotting revealed that a de novo functional variation, p.P211Q (1.84% of 163 patients with right ventricular outflow tract VT), could downregulate <i>FGF12</i> expression significantly.
|
28775062 |
2017 |