rs572010627, 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 0.160 1 161306738 missense variant A/C;T snv 8.0E-06 0.700 1.000 20 1993 2008
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.851 0.160 1 161306738 missense variant A/C;T snv 8.0E-06 0.700 1.000 5 2002 2015
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.851 0.160 1 161306738 missense variant A/C;T snv 8.0E-06 0.010 1.000 1 2002 2002
Heart Block
CUI: C0018794
Disease: Heart Block
7 0.851 0.160 1 161306738 missense variant A/C;T snv 8.0E-06 0.010 1.000 1 2002 2002