Gene: NKX2-5 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs28936670
rs28936670
NKX2-5
A 0.810 CausalMutation CLINVAR

dbSNP: rs28936670
rs28936670
NKX2-5
0.810 GeneticVariation UNIPROT

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
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: rs104893902
rs104893902
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 NKX2.5 mutations in patients with congenital heart disease. 14607454

2003
dbSNP: rs104893902
rs104893902
NKX2-5
0.700 GeneticVariation UNIPROT NKX2.5 mutations in patients with tetralogy of fallot. 11714651

2001
dbSNP: rs104893904
rs104893904
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 Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 10587520

1999
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: rs201442000
rs201442000
NKX2-5
0.700 GeneticVariation UNIPROT

dbSNP: rs2277923
rs2277923
NKX2-5
0.010 GeneticVariation BEFREE Of the above mutations, one mutation was found to be associated with tetralogy of fallot (TOF) and two (rs2277923 and a novel mutation, D16N) were strongly associated with VSD. 29568389

2018