rs137852686, NKX2-5

N. diseases: 4
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
31 0.851 0.080 5 173232997 missense variant T/C snv 0.700 1.000 5 1998 2005
ATRIOVENTRICULAR SEPTAL DEFECT, SOMATIC
2 0.851 0.080 5 173232997 missense variant T/C snv 0.700 0
ATRIOVENTRICULAR CANAL DEFECT
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
14 0.851 0.080 5 173232997 missense variant T/C snv 0.010 1.000 1 2005 2005
Atrioventricular Septal Defect
CUI: C1389018
Disease: Atrioventricular Septal Defect
19 0.851 0.080 5 173232997 missense variant T/C snv 0.010 1.000 1 2005 2005