rs104894623, 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 0.851 0.200 17 15239591 missense variant C/G;T snv 0.800 1.000 4 1999 2004
Hereditary liability to pressure palsies
CUI: C0393814
Disease: Hereditary liability to pressure palsies
11 0.851 0.200 17 15239591 missense variant C/G;T snv 0.800 1.000 3 1998 2004
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.851 0.200 17 15239591 missense variant C/G;T snv 0.700 0
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.851 0.200 17 15239591 missense variant C/G;T snv 0.010 1.000 1 2002 2002