rs121913601, 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 161307259 missense variant G/A;C snv 0.810 1.000 27 1993 2008
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.851 0.080 1 161307259 missense variant G/A;C snv 0.700 1.000 5 1994 2008
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS
CUI: C4016266
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS
2 0.851 0.080 1 161307259 missense variant G/A;C snv 0.700 0
Dejerine-Sottas Disease (disorder)
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
45 0.851 0.080 1 161307259 missense variant G/A;C snv 0.010 1.000 1 1998 1998