rs104894824, 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 0.160 X 71223871 missense variant C/T snv 0.800 1.000 20 1994 2005
Generalized muscle weakness
CUI: C0746674
Disease: Generalized muscle weakness
4 0.882 0.160 X 71223871 missense variant C/T snv 0.010 1.000 1 2001 2001
Hypokalemic periodic paralysis
CUI: C0238358
Disease: Hypokalemic periodic paralysis
19 0.882 0.160 X 71223871 missense variant C/T snv 0.010 1.000 1 2001 2001
Hypokalemic periodic paralysis type 1
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
24 0.882 0.160 X 71223871 missense variant C/T snv 0.010 1.000 1 2001 2001