Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769531968
rs769531968
JAG1
A 0.800 GeneticVariation CLINVAR Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 20437614

2010
dbSNP: rs121434424
rs121434424
GDF1 ; CERS1
0.800 GeneticVariation UNIPROT Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. 17924340

2007
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: rs769531968
rs769531968
JAG1
0.800 GeneticVariation UNIPROT Familial Tetralogy of Fallot caused by mutation in the jagged1 gene. 11152664

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
A 0.800 CausalMutation CLINVAR

dbSNP: rs121434424
rs121434424
GDF1 ; CERS1
T 0.800 CausalMutation CLINVAR

dbSNP: rs187043152
rs187043152
ZFPM2 ; ZFPM2-AS1
A 0.800 CausalMutation CLINVAR

dbSNP: rs187043152
rs187043152
ZFPM2 ; ZFPM2-AS1
0.800 GeneticVariation UNIPROT

dbSNP: rs387906816
rs387906816
GATA6
0.720 GeneticVariation BEFREE Three heterozygous missense mutations, c.151G>A (E51K), c.551G>A (S184N) and c.733G>C (G245R), were identified in patients with tetralogy of Fallot or persistent truncus arteriosus. 24841381

2014
dbSNP: rs387906816
rs387906816
GATA6
0.720 GeneticVariation UNIPROT Identification of GATA6 sequence variants in patients with congenital heart defects. 20581743

2010
dbSNP: rs387906816
rs387906816
GATA6
0.720 GeneticVariation BEFREE The same heterozygous missense mutation (Ser184Asn) was identified in three patients, including one with tetralogy of Fallot and two with atrial septal defects. 20631719

2010
dbSNP: rs387906816
rs387906816
GATA6
0.720 GeneticVariation UNIPROT A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. 20631719

2010
dbSNP: rs387906818
rs387906818
GATA6
0.710 GeneticVariation BEFREE In the first family, we identified a de novo missense mutation (c.1366C>T, p.R456C) in a sporadic CDH patient with tetralogy of Fallot. 24385578

2014
dbSNP: rs387906818
rs387906818
GATA6
T 0.710 CausalMutation CLINVAR Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. 24385578

2014
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: rs387906769
rs387906769
GATA4
0.710 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: rs56208331
rs56208331
GATA4
0.710 GeneticVariation BEFREE Two heterozygous missense mutations of c.1220C > A and c.1273G > A in GATA4 gene, which cause the amino acid residue changes of P407Q and D425N in GATA4, were found in a patient with tetralogy of Fallot and a patient with ventricular septal defect, respectively. 19302747

2009
dbSNP: rs387906769
rs387906769
GATA4
T 0.710 CausalMutation CLINVAR

dbSNP: rs56208331
rs56208331
GATA4
A 0.710 CausalMutation CLINVAR

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: 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: rs774966208
rs774966208
NOTCH1
T 0.700 CausalMutation CLINVAR Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease. 27760138

2016