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.
46,XY SEX REVERSAL 9
CUI: C4015129
Disease: 46,XY SEX REVERSAL 9
3 0.851 0.080 8 105801714 missense variant G/A;T snv 3.4E-03; 4.0E-06 0.800 0
Tetralogy of Fallot
CUI: C0039685
Disease: Tetralogy of Fallot
83 0.851 0.080 8 105801714 missense variant G/A;T snv 3.4E-03; 4.0E-06 0.800 0
Conotruncal defect
CUI: C1853238
Disease: Conotruncal defect
45 0.851 0.080 8 105801714 missense variant G/A;T snv 3.4E-03; 4.0E-06 0.010 1.000 1 2011 2011
Double Outlet Right Ventricle
CUI: C0013069
Disease: Double Outlet Right Ventricle
16 0.851 0.080 8 105801714 missense variant G/A;T snv 3.4E-03; 4.0E-06 0.010 1.000 1 2011 2011