Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28939668
rs28939668
JAG1
0.830 GeneticVariation UNIPROT Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 20437614

2010
dbSNP: rs28939668
rs28939668
JAG1
0.830 GeneticVariation BEFREE A specific G274D mutation in the second epidermal growth factor repeat of the Jagged-1 was found to correlate with tetralogy of Fallot symptoms but not with usual Alagille syndrome phenotypes. 19780835

2009
dbSNP: rs28939668
rs28939668
JAG1
0.830 GeneticVariation BEFREE We have studied a JAG1 missense mutation (JAG1-G274D) that was previously identified in 13 individuals from an extended family with cardiac defects of the type seen in patients with AGS (e.g., peripheral pulmonic stenosis and tetralogy of Fallot) in the absence of liver dysfunction. 12649809

2003
dbSNP: rs28939668
rs28939668
JAG1
0.830 GeneticVariation UNIPROT Familial Tetralogy of Fallot caused by mutation in the jagged1 gene. 11152664

2001
dbSNP: rs28939668
rs28939668
JAG1
0.830 GeneticVariation BEFREE Evaluation of candidate loci in a large kindred segregating autosomal dominant ToF with reduced penetrance culminated in identification of a missense mutation (G274D) in JAG1, the gene encoding jagged1, a Notch ligand expressed in the developing right heart. 11152664

2001
dbSNP: rs28939668
rs28939668
JAG1
T 0.830 CausalMutation CLINVAR

dbSNP: rs2228638
rs2228638
NRP1
0.820 GeneticVariation BEFREE The meta-analysis showed that the T allele of the NRP1 polymorphism rs2228638 was significantly associated with an increased risk of TOF in the combined population, which included European and Chinese Han individuals [combined p < 0.00001, odds ratio (OR) = 1.53, 95% confidence interval (95% CI) = 1.35-1.73]. 29432830

2018
dbSNP: rs2228638
rs2228638
NRP1
0.820 GeneticVariation BEFREE We found that rs2228638 in NRP1 on 10p11 was significantly increased the risk of TOF (OR = 1.52, 95% CI = 1.13-2.04, P = 0.006), but not in other subgroups including ASD and VSD. 24594544

2014
dbSNP: rs2228638
rs2228638
NRP1
A 0.820 GeneticVariation GWASDB Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. 23297363

2013
dbSNP: rs2228638
rs2228638
NRP1
A 0.820 GeneticVariation GWASCAT Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. 23297363

2013
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: rs28936670
rs28936670
NKX2-5
0.810 GeneticVariation BEFREE They found one previously documented NKX2-5 missense alteration, heterozygous c.73C>T (p.Arg25Cys), in a 10-year-old boy with tetralogy of Fallot. 17891434

2008
dbSNP: rs115099192
rs115099192
GATA4
A 0.810 CausalMutation CLINVAR

dbSNP: rs115099192
rs115099192
GATA4
0.810 GeneticVariation UNIPROT

dbSNP: rs28936670
rs28936670
NKX2-5
A 0.810 CausalMutation CLINVAR

dbSNP: rs28936670
rs28936670
NKX2-5
0.810 GeneticVariation UNIPROT

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: rs2388896
rs2388896
LINC02676
G 0.800 GeneticVariation GWASCAT Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. 23297363

2013
dbSNP: rs2388896
rs2388896
LINC02676
G 0.800 GeneticVariation GWASDB Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. 23297363

2013
dbSNP: rs6499100
rs6499100 		A 0.800 GeneticVariation GWASCAT Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. 23297363

2013
dbSNP: rs6499100
rs6499100 		A 0.800 GeneticVariation GWASDB Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. 23297363

2013
dbSNP: rs7982677
rs7982677
GPC5
A 0.800 GeneticVariation GWASCAT Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. 23297363

2013
dbSNP: rs7982677
rs7982677
GPC5
A 0.800 GeneticVariation GWASDB Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. 23297363

2013
dbSNP: rs769531968
rs769531968
JAG1
0.800 GeneticVariation UNIPROT Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 20437614

2010