rs121913594, 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 161306914 missense variant T/C snv 0.800 1.000 23 1993 2011
Charcot-Marie-Tooth disease, Type 2I
CUI: C3888087
Disease: Charcot-Marie-Tooth disease, Type 2I
14 0.882 0.080 1 161306914 missense variant T/C snv 0.700 1.000 5 1998 2004
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.882 0.080 1 161306914 missense variant T/C snv 0.700 0