Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28939668
rs28939668
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.830 GeneticVariation UNIPROT Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 20437614

2010

dbSNP: rs28939668
rs28939668
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.830 GeneticVariation UNIPROT Familial Tetralogy of Fallot caused by mutation in the jagged1 gene. 11152664

2001

dbSNP: rs115099192
rs115099192
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.810 GeneticVariation UNIPROT

dbSNP: rs28936670
rs28936670
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.810 GeneticVariation UNIPROT

dbSNP: rs104893905
rs104893905
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.800 GeneticVariation UNIPROT NKX2.5 mutations in patients with congenital heart disease. 14607454

2003

dbSNP: rs104893905
rs104893905
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.800 GeneticVariation UNIPROT NKX2.5 mutations in patients with tetralogy of fallot. 11714651

2001

dbSNP: rs104893905
rs104893905
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.800 GeneticVariation UNIPROT Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 10587520

1999

dbSNP: rs121434424
rs121434424
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
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: rs187043152
rs187043152
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.800 GeneticVariation UNIPROT

dbSNP: rs769531968
rs769531968
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.800 GeneticVariation UNIPROT Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 20437614

2010

dbSNP: rs769531968
rs769531968
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.800 GeneticVariation UNIPROT Familial Tetralogy of Fallot caused by mutation in the jagged1 gene. 11152664

2001

dbSNP: rs387906816
rs387906816
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.720 GeneticVariation UNIPROT Identification of GATA6 sequence variants in patients with congenital heart defects. 20581743

2010

dbSNP: rs387906816
rs387906816
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.720 GeneticVariation UNIPROT A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. 20631719

2010

dbSNP: rs104893902
rs104893902
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.700 GeneticVariation UNIPROT NKX2.5 mutations in patients with congenital heart disease. 14607454

2003

dbSNP: rs104893902
rs104893902
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.700 GeneticVariation UNIPROT NKX2.5 mutations in patients with tetralogy of fallot. 11714651

2001

dbSNP: rs104893902
rs104893902
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.700 GeneticVariation UNIPROT Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 10587520

1999

dbSNP: rs104893904
rs104893904
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.700 GeneticVariation UNIPROT NKX2.5 mutations in patients with congenital heart disease. 14607454

2003

dbSNP: rs104893904
rs104893904
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.700 GeneticVariation UNIPROT NKX2.5 mutations in patients with tetralogy of fallot. 11714651

2001

dbSNP: rs104893904
rs104893904
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.700 GeneticVariation UNIPROT Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 10587520

1999

dbSNP: rs121908601
rs121908601
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.700 GeneticVariation UNIPROT New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. 20807224

2011

dbSNP: rs121908601
rs121908601
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.700 GeneticVariation UNIPROT Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. 14517948

2003

dbSNP: rs201442000
rs201442000
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.700 GeneticVariation UNIPROT

dbSNP: rs28374544
rs28374544
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.700 GeneticVariation UNIPROT

dbSNP: rs387906814
rs387906814
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.700 GeneticVariation UNIPROT Identification of GATA6 sequence variants in patients with congenital heart defects. 20581743

2010

dbSNP: rs387906814
rs387906814
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.700 GeneticVariation UNIPROT A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. 20631719

2010