rs104894617, PMP22

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 Ia (disorder)
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
24 0.851 0.080 17 15260681 missense variant A/G snv 0.800 1.000 14 1992 2004
Dejerine-Sottas Disease (disorder)
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
45 0.851 0.080 17 15260681 missense variant A/G snv 0.700 1.000 16 1993 2002
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.851 0.080 17 15260681 missense variant A/G snv 0.700 1.000 10 1983 2015
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.851 0.080 17 15260681 missense variant A/G snv 0.010 1.000 1 2014 2014