rs121913589, MPZ

N. diseases: 7
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 0.200 1 161306863 missense variant C/A;G;T snv 0.800 1.000 25 1993 2010
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.827 0.200 1 161306863 missense variant C/A;G;T snv 0.700 1.000 6 1993 2010
Congenital pes cavus
CUI: C0728829
Disease: Congenital pes cavus
15 0.827 0.200 1 161306863 missense variant C/A;G;T snv 0.700 0
Decreased nerve conduction velocity
CUI: C1857640
Disease: Decreased nerve conduction velocity
5 0.827 0.200 1 161306863 missense variant C/A;G;T snv 0.700 0
Distal lower limb amyotrophy
CUI: C1836451
Disease: Distal lower limb amyotrophy
8 0.827 0.200 1 161306863 missense variant C/A;G;T snv 0.700 0
Distal muscle weakness
CUI: C0427065
Disease: Distal muscle weakness
16 0.827 0.200 1 161306863 missense variant C/A;G;T snv 0.700 0
Sensory neuropathy
CUI: C0151313
Disease: Sensory neuropathy
15 0.827 0.200 1 161306863 missense variant C/A;G;T snv 0.700 0