rs116840819, GJB1

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, X-linked, 1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
82 0.882 0.240 X 71223930 missense variant C/A;T snv 0.800 1.000 20 1994 2005
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.882 0.240 X 71223930 missense variant C/A;T snv 0.010 1.000 1 2000 2000
Klinefelter Syndrome, Variants
CUI: C0543754
Disease: Klinefelter Syndrome, Variants
1 0.882 0.240 X 71223930 missense variant C/A;T snv 0.010 1.000 1 1997 1997
Peripheral demyelinating neuropathy
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
14 0.882 0.240 X 71223930 missense variant C/A;T snv 0.010 1.000 1 2009 2009