Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893905
rs104893905
NKX2-5
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
NKX2-5
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
NKX2-5
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