rs281865127, MPZ

N. diseases: 5
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, Type Ib
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
51 0.827 0.120 1 161306767 missense variant T/C snv 0.800 1.000 20 1993 2008
Dejerine-Sottas Disease (disorder)
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
45 0.827 0.120 1 161306767 missense variant T/C snv 0.700 1.000 12 1993 2003
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.827 0.120 1 161306767 missense variant T/C snv 0.700 1.000 6 1996 2018
Hereditary liability to pressure palsies
CUI: C0393814
Disease: Hereditary liability to pressure palsies
11 0.827 0.120 1 161306767 missense variant T/C snv 0.010 1.000 1 1997 1997
Charcot-Marie-Tooth disease, Type 2I
CUI: C3888087
Disease: Charcot-Marie-Tooth disease, Type 2I
14 0.827 0.120 1 161306767 missense variant T/C snv 0.700 1.000 5 1998 2004