rs387906775, NKX2-5

N. diseases: 3
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.
VENTRICULAR SEPTAL DEFECT 3
CUI: C3280785
Disease: VENTRICULAR SEPTAL DEFECT 3
2 0.925 0.080 5 173234909 missense variant G/C snv 0.700 1.000 2 2010 2011
Common atrioventricular canal
CUI: C0221215
Disease: Common atrioventricular canal
2 0.925 0.080 5 173234909 missense variant G/C snv 0.700 0
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 0.925 0.080 5 173234909 missense variant G/C snv 0.010 1.000 1 2011 2011