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.
Progressive supranuclear palsy
CUI: C0038868
Disease: Progressive supranuclear palsy
52 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1 2013 2013
Psychiatric symptom
CUI: C0233401
Disease: Psychiatric symptom
12 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1.000 1 2014 2014
Sporadic CJD
CUI: C4310512
Disease: Sporadic CJD
17 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1.000 1 2014 2014