rs121913599, 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.
Roussy-Levy Syndrome (disorder)
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
5 0.882 0.080 1 161306763 missense variant G/T snv 0.800 1.000 1 1999 1999
Charcot-Marie-Tooth Disease, Type Ib
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
51 0.882 0.080 1 161306763 missense variant G/T snv 0.700 0
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.882 0.080 1 161306763 missense variant G/T snv 0.010 1.000 1 2003 2003