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.
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.925 0.080 8 24953776 missense variant C/T snv 0.020 1.000 2 2004 2015
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.925 0.080 8 24953776 missense variant C/T snv 0.020 1.000 2 2004 2015
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
16 0.925 0.080 8 24953776 missense variant C/T snv 0.010 1.000 1 2011 2011
Mechanical Allodynia
CUI: C2936719
Disease: Mechanical Allodynia
4 0.925 0.080 8 24953776 missense variant C/T snv 0.010 1.000 1 2015 2015