rs879253954, PMP22

N. diseases: 4
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, Demyelinating, Type 1e
CUI: C3495591
Disease: Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
7 0.882 0.160 17 15230951 missense variant C/A;T snv 0.700 0
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.882 0.160 17 15230951 missense variant C/A;T snv 0.010 1.000 1 2014 2014
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.882 0.160 17 15230951 missense variant C/A;T snv 0.010 1.000 1 1998 1998
Dejerine-Sottas Disease (disorder)
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
45 0.882 0.160 17 15230951 missense variant C/A;T snv 0.800 1.000 16 1993 2002