Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918460
rs121918460
PTPN11
G 0.700 CausalMutation CLINVAR A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 29555671

2018
dbSNP: rs1555223259
rs1555223259
TBX5
C 0.700 CausalMutation CLINVAR A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 29555671

2018
dbSNP: rs1057518422
rs1057518422
TAB2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1282433424
rs1282433424
GATA4
T 0.700 GeneticVariation CLINVAR

dbSNP: rs16835979
rs16835979
STX18-AS1
0.020 GeneticVariation BEFREE Three single nucleotide polymorphisms (SNPs), rs16835979, rs870142 and rs6824295, located in chromosome 4p16 were associated with the risk of ostium secundum atrial septal defect (ASD) in the European population. 26283177

2016
dbSNP: rs6824295
rs6824295
STX18-AS1
0.020 GeneticVariation BEFREE Three single nucleotide polymorphisms (SNPs), rs16835979, rs870142 and rs6824295, located in chromosome 4p16 were associated with the risk of ostium secundum atrial septal defect (ASD) in the European population. 26283177

2016
dbSNP: rs870142
rs870142
STX18-AS1
0.020 GeneticVariation BEFREE Three single nucleotide polymorphisms (SNPs), rs16835979, rs870142 and rs6824295, located in chromosome 4p16 were associated with the risk of ostium secundum atrial septal defect (ASD) in the European population. 26283177

2016
dbSNP: rs16835979
rs16835979
STX18-AS1
0.020 GeneticVariation BEFREE Some studies including our published genome-wide association study (GWAS) of CHD have indicated that genetic variants may contribute to the risk of CHD.Recently, Cordell et al. published a GWAS of multiple CHD phenotypes in European Caucasians and identified 3 susceptibility loci (rs870142, rs16835979 and rs6824295) for ostium secundum atrial septal defect (ASD) at chromosome 4p16. 25215500

2014
dbSNP: rs6824295
rs6824295
STX18-AS1
0.020 GeneticVariation BEFREE Some studies including our published genome-wide association study (GWAS) of CHD have indicated that genetic variants may contribute to the risk of CHD.Recently, Cordell et al. published a GWAS of multiple CHD phenotypes in European Caucasians and identified 3 susceptibility loci (rs870142, rs16835979 and rs6824295) for ostium secundum atrial septal defect (ASD) at chromosome 4p16. 25215500

2014
dbSNP: rs870142
rs870142
STX18-AS1
0.020 GeneticVariation BEFREE Some studies including our published genome-wide association study (GWAS) of CHD have indicated that genetic variants may contribute to the risk of CHD.Recently, Cordell et al. published a GWAS of multiple CHD phenotypes in European Caucasians and identified 3 susceptibility loci (rs870142, rs16835979 and rs6824295) for ostium secundum atrial septal defect (ASD) at chromosome 4p16. 25215500

2014
dbSNP: rs1217691063
rs1217691063
MTHFR
0.010 GeneticVariation BEFREE The aim of our study was to evaluate the frequency of the C677T variant in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with migraine with or without aura and to find an association between this variant and vascular lesions in magnetic resonance imaging of the head, presence of patent foramen ovale (PFO) and increased level of homocysteine. 23161188

2013
dbSNP: rs899127658
rs899127658
F2
0.010 GeneticVariation BEFREE Genetic polymorphisms of haemostatic factors such as G1691A factor V (FV Leiden) and G20210A prothrombin (FII) may be involved in the onset of patent foramen ovale (PFO)-related cerebral ischaemia. 22909823

2012
dbSNP: rs3729856
rs3729856
GATA4
0.010 GeneticVariation BEFREE Thus, the common GATA4 variant S377G is likely to be relatively benign in terms of its participation in CHD and PFO/Stroke. 21673957

2011