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.
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05 0.010 1.000 1 2016 2016
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05 0.010 1.000 1 2016 2016
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05 0.010 1.000 1 2018 2018
Nonorganic psychosis
CUI: C0349204
Disease: Nonorganic psychosis
98 0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05 0.010 1.000 1 2016 2016
Psychotic Disorders
CUI: C0033975
Disease: Psychotic Disorders
179 0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05 0.010 1.000 1 2016 2016