rs104894160, EGR2

N. diseases: 2
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 0.925 0.080 10 62813491 missense variant C/A snv 0.710 1.000 1 2003 2003
Charcot-Marie-Tooth disease, Type 1D (disorder)
CUI: C1843247
Disease: Charcot-Marie-Tooth disease, Type 1D (disorder)
4 0.925 0.080 10 62813491 missense variant C/A snv 0.700 1.000 7 1998 2005