rs121913596, 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 0.080 1 161307389 missense variant C/A;T snv 4.0E-06 0.700 1.000 20 1993 2008
Charcot-Marie-Tooth Disease, Dominant Intermediate D
CUI: C1843075
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate D
6 0.851 0.080 1 161307389 missense variant C/A;T snv 4.0E-06 0.700 1.000 1 1999 1999
Charcot-Marie-Tooth disease, Type 2I
CUI: C3888087
Disease: Charcot-Marie-Tooth disease, Type 2I
14 0.851 0.080 1 161307389 missense variant C/A;T snv 4.0E-06 0.700 0
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.851 0.080 1 161307389 missense variant C/A;T snv 4.0E-06 0.700 0