rs104893900, 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.
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
31 1.000 5 173233011 missense variant G/A snv 0.800 1.000 5 1998 2005
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 1.000 5 173233011 missense variant G/A snv 0.010 1.000 1 2003 2003