Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10080
rs10080
NRP1
0.010 GeneticVariation BEFREE In addition, the association analysis suggested for the first time that there is a strong association between the allele distribution of rs10080 and susceptibility to TOF (p = 0.001). 29432830

2018
dbSNP: rs104893902
rs104893902
NKX2-5
0.700 GeneticVariation UNIPROT NKX2.5 mutations in patients with tetralogy of fallot. 11714651

2001
dbSNP: rs104893902
rs104893902
NKX2-5
0.700 GeneticVariation UNIPROT NKX2.5 mutations in patients with congenital heart disease. 14607454

2003
dbSNP: rs104893902
rs104893902
NKX2-5
0.700 GeneticVariation UNIPROT Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 10587520

1999
dbSNP: rs104893904
rs104893904
NKX2-5
0.700 GeneticVariation UNIPROT NKX2.5 mutations in patients with congenital heart disease. 14607454

2003
dbSNP: rs104893904
rs104893904
NKX2-5
0.700 GeneticVariation UNIPROT Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 10587520

1999
dbSNP: rs104893904
rs104893904
NKX2-5
0.700 GeneticVariation UNIPROT NKX2.5 mutations in patients with tetralogy of fallot. 11714651

2001
dbSNP: rs104893905
rs104893905
NKX2-5
0.800 GeneticVariation UNIPROT Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 10587520

1999
dbSNP: rs104893905
rs104893905
NKX2-5
0.800 GeneticVariation UNIPROT NKX2.5 mutations in patients with congenital heart disease. 14607454

2003
dbSNP: rs104893905
rs104893905
NKX2-5
0.800 GeneticVariation UNIPROT NKX2.5 mutations in patients with tetralogy of fallot. 11714651

2001
dbSNP: rs104893905
rs104893905
NKX2-5
A 0.800 CausalMutation CLINVAR

dbSNP: rs1057515420
rs1057515420
EPHB4
A 0.700 GeneticVariation CLINVAR De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. 19597493

2009
dbSNP: rs1057515420
rs1057515420
EPHB4
A 0.700 GeneticVariation CLINVAR Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease. 27760138

2016
dbSNP: rs11065987
rs11065987 		G 0.800 GeneticVariation GWASDB Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. 23297363

2013
dbSNP: rs11065987
rs11065987 		G 0.800 GeneticVariation GWASCAT Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. 23297363

2013
dbSNP: rs11066188
rs11066188
HECTD4
0.700 GeneticVariation GWASDB Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. 23297363

2013
dbSNP: rs11066320
rs11066320
PTPN11
0.710 GeneticVariation GWASDB Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. 23297363

2013
dbSNP: rs11066320
rs11066320
PTPN11
0.710 GeneticVariation BEFREE Genotype at rs11066320 was associated with a per-allele odds ratio of 1.34 (95% confidence interval [CI], 1.19 to 1.52; P=2.9 × 10(-6)) in the total cohort of TOF cases and controls; this remained highly significant after Bonferroni correction for 207 analyses (corrected P=0.00061). 22503907

2012
dbSNP: rs1114167357
rs1114167357
TPM1
C 0.700 GeneticVariation CLINVAR Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects. 28359939

2017
dbSNP: rs1131695
rs1131695
JAG1
0.010 GeneticVariation BEFREE The c.765C>T variant is significantly associated with the pathogenesis of TOF in Iranian population. 29631691

2018
dbSNP: rs115099192
rs115099192
GATA4
A 0.810 CausalMutation CLINVAR

dbSNP: rs115099192
rs115099192
GATA4
0.810 GeneticVariation BEFREE Two novel mutations in the coding region of GATA4 were identified, namely, 487C >T (Pro163Ser) in exon 1 in a child with tetralogy of Fallot and 1220C >A (Pro407Gln) in exon 6 in a pediatric patient with outlet membranous ventricular septal defect. 21110066

2010
dbSNP: rs115099192
rs115099192
GATA4
0.810 GeneticVariation UNIPROT

dbSNP: rs115875978
rs115875978
ALDH1A2
0.010 GeneticVariation BEFREE We describe in Tetralogy of Fallot (TOF) the mutations Ala151Ser and Ile157Thr that change non-polar to polar residues at exon 4. 19886994

2009
dbSNP: rs1185861796
rs1185861796
GATA4
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