rs104893905, NKX2-5

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Tetralogy of Fallot
CUI: C0039685
Disease: Tetralogy of Fallot
83 0.925 0.080 5 173232898 missense variant G/A snv 4.4E-06 0.800 1.000 3 1999 2003
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
31 0.925 0.080 5 173232898 missense variant G/A snv 4.4E-06 0.700 1.000 5 1998 2005