rs121913590, MPZ

N. diseases: 4
Source: BEFREE ×
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
2 0.851 0.080 1 161306864 missense variant G/A snv 7.0E-06 0.820 1.000 2 1993 2019
Dejerine-Sottas Disease (disorder)
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
27 0.851 0.080 1 161306864 missense variant G/A snv 7.0E-06 0.710 1.000 1 1993 2010
Neuropathy
CUI: C0442874
Disease: Neuropathy
75 0.851 0.080 1 161306864 missense variant G/A snv 7.0E-06 0.020 1.000 2 2006 2012
Segmental demyelination
CUI: C0333457
Disease: Segmental demyelination
2 0.851 0.080 1 161306864 missense variant G/A snv 7.0E-06 0.010 1.000 1 2006 2006