rs121913585, MPZ

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, Type Ib
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
51 0.851 0.080 1 161307304 missense variant G/A;C snv 0.800 1.000 20 1993 2008
Dejerine-Sottas Disease (disorder)
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
45 0.851 0.080 1 161307304 missense variant G/A;C snv 0.710 1.000 13 1993 2003
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.851 0.080 1 161307304 missense variant G/A;C snv 0.700 1.000 3 1993 2010
DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
CUI: C4016264
Disease: DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
6 0.851 0.080 1 161307304 missense variant G/A;C snv 0.700 0