Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104893905
rs104893905
NKX2-5
0.925 0.080 5 173232898 missense variant G/A snv 4.4E-06
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 1.000 3 1999 2003
dbSNP: rs104893905
rs104893905
NKX2-5
0.925 0.080 5 173232898 missense variant G/A snv 4.4E-06
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 1.000 5 1998 2005