rs121913597, 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 2J
CUI: C1843153
Disease: Charcot-Marie-Tooth disease, Type 2J
7 0.827 0.160 1 161307268 missense variant T/A snv 0.800 1.000 4 1999 2006
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.827 0.160 1 161307268 missense variant T/A snv 0.710 1.000 1 2000 2000
Charcot-Marie-Tooth disease, Type 2I
CUI: C3888087
Disease: Charcot-Marie-Tooth disease, Type 2I
14 0.827 0.160 1 161307268 missense variant T/A snv 0.700 1.000 5 1998 2004
Charcot-Marie-Tooth Disease, Type Ib
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
51 0.827 0.160 1 161307268 missense variant T/A snv 0.700 0
Dejerine-Sottas Disease (disorder)
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
45 0.827 0.160 1 161307268 missense variant T/A snv 0.010 1.000 1 2010 2010