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.
Congenital heart disease
CUI: C0152021
Disease: Congenital heart disease
80 1.000 0.080 22 18913477 stop gained G/A;C snv 9.8E-06; 4.9E-06 0.010 1.000 1 2015 2015
Tetralogy of Fallot
CUI: C0039685
Disease: Tetralogy of Fallot
83 1.000 0.080 22 18913477 stop gained G/A;C snv 9.8E-06; 4.9E-06 0.010 1.000 1 2015 2015