rs281865137, EGR2

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.
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.851 0.080 10 62813496 missense variant C/T snv 0.710 1.000 7 2000 2014
Charcot-Marie-Tooth disease, Type 1D (disorder)
CUI: C1843247
Disease: Charcot-Marie-Tooth disease, Type 1D (disorder)
4 0.851 0.080 10 62813496 missense variant C/T snv 0.700 1.000 7 1998 2005
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.851 0.080 10 62813496 missense variant C/T snv 0.010 1.000 1 2000 2000
Congenital hypomyelinating neuropathy
CUI: C0393818
Disease: Congenital hypomyelinating neuropathy
10 0.851 0.080 10 62813496 missense variant C/T snv 0.010 1.000 1 2001 2001