rs116840817, 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 0.925 0.080 X 71223852 missense variant T/C snv 0.800 1.000 20 1994 2005
Inherited neuropathies
CUI: C0598589
Disease: Inherited neuropathies
4 0.925 0.080 X 71223852 missense variant T/C snv 0.010 1.000 1 2002 2002
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.925 0.080 X 71223852 missense variant T/C snv 0.010 1.000 1 2002 2002