rs104894826, GJB1

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.
Charcot-Marie-Tooth disease, X-linked, 1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
82 0.882 0.080 X 71224114 missense variant T/C snv 0.800 1.000 20 1994 2005
Dejerine-Sottas Disease (disorder)
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
45 0.882 0.080 X 71224114 missense variant T/C snv 0.800 1.000 1 2005 2005
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.882 0.080 X 71224114 missense variant T/C snv 0.010 1.000 1 2005 2005