rs281865128, MPZ

N. diseases: 5
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 161306426 missense variant C/G;T snv 0.800 1.000 20 1993 2008
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.882 0.080 1 161306426 missense variant C/G;T snv 0.700 1.000 4 1996 2016
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.882 0.080 1 161306426 missense variant C/G;T snv 0.020 1.000 2 2002 2019
Peripheral Nervous System Diseases
CUI: C4721453
Disease: Peripheral Nervous System Diseases
69 0.882 0.080 1 161306426 missense variant C/G;T snv 0.010 1.000 1 2019 2019
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.882 0.080 1 161306426 missense variant C/G;T snv 0.010 1.000 1 2019 2019