|
rs1045642
|
|
|
0.020 |
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 |
|
rs1045642
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The C3435T polymorphism in the ABCB1 gene of fetus increases the risks of CHD in a Han Chinese population when the mothers are exposed to phthalates and alkylphenolic compounds during the periconceptional period, particularly for septal defects.
|
23874772 |
2013 |
|
rs28936670
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition to two polymorphisms of NKX2-5 (rs2277923, rs28936670) variant in the cardiac septal defect, two variants in GATA4 (rs368418329, rs56166237) and one variant in TBX5 (rs6489957) seem to have a role in the pathogenesis of congenital heart disease.
|
30834692 |
2019 |
|
rs397517251
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The present study is the first to identify the p.S187F mutant of ANKRD1, which is associated with cardiac septal defects.
|
30659708 |
2019 |
|
rs6489957
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition to two polymorphisms of NKX2-5 (rs2277923, rs28936670) variant in the cardiac septal defect, two variants in GATA4 (rs368418329, rs56166237) and one variant in TBX5 (rs6489957) seem to have a role in the pathogenesis of congenital heart disease.
|
30834692 |
2019 |
|
rs11041321
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The intronic SYT9 variant rs11041321, which exhibits a significant genome-wide association with circulating homocysteine, was associated with the occurrence of CCSDs.
|
28834160 |
2017 |
|
rs2230774
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results suggest that there is no association of the ROCK2 gene Thr431Asn polymorphism with the development of cardiac septal defects in pediatric patients.
|
24668682 |
2014 |
|
rs2231137
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, 34G>A polymorphism in the ABCG2 gene of the children is associated with isolated septal defects in a Han Chinese population, presumably through regulation of BCRP expression in the placenta.
|
24979295 |
2014 |
|
rs2231142
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study aimed at exploring the associations between 421C>A and 34G>A polymorphisms within the ABCG2 gene of the children and isolated septal defects in a Han Chinese population.
|
24979295 |
2014 |
|
rs1037630475
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel heterozygous mutations were discovered in the GATA4 gene in five children with cardiac septal defects (10%, 5/50), His28Tyr in exon 2 and His436Tyr in exon 7, respectively, which were neither found in the control population nor reported in the SNP database at the website http://www.ncbi.nlm.nih.gov/SNP.
|
19915893 |
2010 |
|
rs1406275331
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel heterozygous mutations were discovered in the GATA4 gene in five children with cardiac septal defects (10%, 5/50), His28Tyr in exon 2 and His436Tyr in exon 7, respectively, which were neither found in the control population nor reported in the SNP database at the website http://www.ncbi.nlm.nih.gov/SNP.
|
19915893 |
2010 |
|
rs193922680
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The ACTC E101K mutation should be considered in the genetic diagnosis of LVNC, apical HCM, and septal defects.
|
17611253 |
2007 |
|
rs2236225
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MTHFD G1958A mutation in parents (particularly in mother) can decrease the risk of arterial septal defect in offspring.
|
15861780 |
2005 |