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rs397517025
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs587782927
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs727504432
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs868789318
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
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 |
|
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 |
|
rs1407369744
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Whole-Exome Sequencing Identifies a Novel Mutation (p.L320R) of Alpha-Actinin 2 in a Chinese Family with Dilated Cardiomyopathy and Ventricular Tachycardia.
|
30630173 |
2019 |
|
rs149868494
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Significant association was also identified between p.Gly8Ser and idiopathic VT (P = 1.89 × 10<sup>-5</sup>, OR = 7.27).
|
31020414 |
2019 |
|
rs754428169
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Additional rare TJP1 variants have been identified in 1 of 40 Italian probands (c.793C>T p.(R265W)) with arrhythmogenic right ventricular cardiomyopathy and in 2 of 43 Dutch/German patients (c. 986C>T, p.(S329L) and c.1079A>T, p.(D360V)) with dilated cardiomyopathy and recurrent ventricular tachycardia.
|
30354300 |
2018 |
|
rs755373114
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We detected a rare, heterozygous ANK2 variant (p.Q1283H) in a proband with recurrent ventricular tachycardia.
|
30571258 |
2018 |
|
rs12143842
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The genetic variation rs12143842 in NOS1AP increases idiopathic ventricular tachycardia risk in Chinese Han populations.
|
28827735 |
2017 |
|
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 |
|
rs2686464
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We tested the hypothesis that genetic variations in <i>FGF12</i> are associated with VT in 2 independent Chinese cohorts and resequenced all the exons and exon-intron boundaries and the 5' and 3' untranslated regions of <i>FGF12</i> in 320 unrelated participants with idiopathic VT. For population-based case-control association studies, we chose 3 single-nucleotide polymorphisms-rs1460922, rs4687326, and rs2686464-which included all the exons of <i>FGF12</i>.
|
28775062 |
2017 |
|
rs4687326
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We tested the hypothesis that genetic variations in <i>FGF12</i> are associated with VT in 2 independent Chinese cohorts and resequenced all the exons and exon-intron boundaries and the 5' and 3' untranslated regions of <i>FGF12</i> in 320 unrelated participants with idiopathic VT. For population-based case-control association studies, we chose 3 single-nucleotide polymorphisms-rs1460922, rs4687326, and rs2686464-which included all the exons of <i>FGF12</i>.
|
28775062 |
2017 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |