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.
Dicarboxylicaminoaciduria
CUI: C1857253
Disease: Dicarboxylicaminoaciduria
2 0.925 0.280 9 4585316 missense variant C/T snv 4.0E-06 0.810 1.000 1 2011 2011
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.925 0.280 9 4585316 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.925 0.280 9 4585316 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011