|
rs1045642
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, fetal 3435 C>T polymorphism in the ABCB1 gene increases the risk for isolated septal defects in the presence of maternal medication use periconceptionally, particularly for perimembranous VSD.
|
24740628 |
2014 |
|
rs10465885
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In multivariate analysis, preoperative digoxin exposure (odds ratio [OR] 2.4, 95% confidence interval [CI] 1.3-4.4), aortic cross-clamp time (OR 1.08, 95% CI 1.04-1.11), ventricular septal defect closure (OR 2.2, 95% CI 1.2-4.1), and a common polymorphism in the gene encoding connexin-40 (GJA5 rs10465885 TT genotype; OR 2.1, 95% CI 1.2-3.8) were independently associated with postoperative CHB.
|
27826129 |
2017 |
|
rs104894073
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We previously reported that a heterozygous G296S missense mutation of GATA4 caused atrial and ventricular septal defects and pulmonary valve stenosis in humans.
|
22589735 |
2012 |
|
rs104894073
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A novel heterozygous GATA4 mutation, p.G296R, was identified in a family with VSD inherited as an autosomal dominant trait.
|
21637914 |
2011 |
|
rs1057516039
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
|
rs1057516047
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
|
rs1057518868
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1057518914
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs11067075
|
|
|
0.010 |
GeneticVariation |
BEFREE |
SNP rs11067075 within the TBX5 gene had significant correlation with ventricular septal defect (P = 0.0037) by single marker association analysis.
|
19187613 |
2009 |
|
rs1114167294
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs113331868
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
|
rs1163944538
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs11665469
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three SNPs (rs7240256, rs11665469, and rs754505) within the NFATc1 gene had significant correlation with VSD by single marker association analysis.
|
23286482 |
2013 |
|
rs1185861796
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among the available genomic studies, the key findings in Africa were variants in GATA4 (P193H), MTHFR 677TT, and MTHFR 1298CC that were associated with atrial septal defect, ventricular septal defect (VSD), Tetralogy of Fallot (TOF), and patent ductus arteriosus phenotypes and 22q.11 deletion, which is associated with TOF.
|
29762087 |
2018 |
|
rs1217691063
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In either maternal or paternal group, the MTHFR 677C>T polymorphism was independently related to fetal non-VSD, while the MTRR 66A>G polymorphism was independently related to fetal VSD.
|
28758112 |
2017 |
|
rs1217691063
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The distribution of genotype frequency at C677T polymorphism site was significantly different between the CHD group (including ventricular septal defect, atrial septal defect, tetralogy of fallot, double outlet right ventricle, patent ductus arteriosus) (child and mother) and healthy control group (child and mother).
|
30334422 |
2019 |
|
rs12190287
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results demonstrate that rs12190287 polymorphisms confer predisposition to VSDs in the Chinese population studied here.
|
28346832 |
2017 |
|
rs121908557
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
[The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis].
|
19065518 |
2008 |
|
rs121908557
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
|
15596759 |
2004 |
|
rs121918455
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121918466
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Q79R SHP2 embryonic hearts showed altered cardiomyocyte cell cycling, ventricular noncompaction, and ventricular septal defects, while, in the postnatal cardiomyocyte, Q79R SHP2 expression was completely benign.
|
17641779 |
2007 |
|
rs1294950721
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1334099693
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
|
30661772 |
2019 |
|
rs1352010373
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1357911800
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We discovered two novel variants: c.586C>T (p.Arg196Trp) and c.2389A>T (p.Ser797Cys) in 300 nonsyndromic VSD patients.
|
19619907 |
2010 |