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, AXONAL, TYPE 2E (disorder)
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
16 0.882 0.080 8 24953779 missense variant C/T snv 0.810 1.000 15 2000 2016
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
CUI: C4693509
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
2 0.882 0.080 8 24953779 missense variant C/T snv 0.800 1.000 4 2004 2016
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.882 0.080 8 24953779 missense variant C/T snv 0.020 1.000 2 2015 2017