Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs1857231
rs1857231 		0.700 GeneticVariation GWASDB Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. 23297363

2013
dbSNP: rs12519770
rs12519770
ADGRV1
0.010 GeneticVariation BEFREE In our cohort, TOF was significantly associated with a genotyped single-nucleotide polymorphism (rs12519770, <i>P</i>=2.98×10<sup>-</sup><sup>8</sup>) in an intron of the adhesion <i>GPR98</i> (G-protein-coupled receptor V1) gene on chromosome 5q14.3. 29025761

2017
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: rs149655951
rs149655951
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: rs16939660
rs16939660
ALDH1A2
0.010 GeneticVariation BEFREE We determined that the SNP rs16939660, previously associated with spina bifida and observed in patients with TOF, does not affect splicing. 19886994

2009
dbSNP: rs1569484120
rs1569484120
ATP6 ; ATP8 ; COX1 ; COX2
CGGG 0.700 GeneticVariation CLINVAR

dbSNP: rs1569484122
rs1569484122
ATP6 ; ATP8 ; COX1 ; COX2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1569484124
rs1569484124
ATP6 ; ATP8 ; COX1 ; COX2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1569484126
rs1569484126
ATP6 ; ATP8 ; COX1 ; COX2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1569484164
rs1569484164
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
G 0.700 CausalMutation CLINVAR

dbSNP: rs1569484288
rs1569484288
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
TATC 0.700 CausalMutation CLINVAR

dbSNP: rs1569484299
rs1569484299
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
GCCC 0.700 CausalMutation CLINVAR

dbSNP: rs1569484301
rs1569484301
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CTTT 0.700 CausalMutation CLINVAR

dbSNP: rs653178
rs653178
ATXN2
0.700 GeneticVariation GWASDB Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. 23297363

2013
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
0.700 GeneticVariation GWASDB Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. 23297363

2013
dbSNP: rs587783446
rs587783446
CHD7
T 0.700 CausalMutation CLINVAR

dbSNP: rs563655306
rs563655306
CITED2
0.010 GeneticVariation BEFREE We investigated the function and mechanism of two missense mutations, G184S and S192G, responsible for tetralogy of Fallot and aortic stenosis, respectively. 22735262

2012
dbSNP: rs1569484042
rs1569484042
COX1 ; COX2 ; ND2
C 0.700 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: rs115099192
rs115099192
GATA4
A 0.810 CausalMutation CLINVAR