rs770546306, MPZ

N. diseases: 3
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 0.882 0.080 1 161307402 missense variant G/A;C;T snv 3.2E-05; 5.2E-05 0.800 1.000 1 1993 1993
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.882 0.080 1 161307402 missense variant G/A;C;T snv 3.2E-05; 5.2E-05 0.700 1.000 5 1993 2015
Dejerine-Sottas Disease (disorder)
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
45 0.882 0.080 1 161307402 missense variant G/A;C;T snv 3.2E-05; 5.2E-05 0.010 1.000 1 2015 2015