rs80356697, CLCN1

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.
Generalized Myotonia of Thomsen
CUI: C2936781
Disease: Generalized Myotonia of Thomsen
61 0.882 0.120 7 143342013 missense variant T/A snv 1.6E-05 0.710 1.000 13 1993 2016
Myotonia Congenita
CUI: C0027127
Disease: Myotonia Congenita
38 0.882 0.120 7 143342013 missense variant T/A snv 1.6E-05 0.710 1.000 1 2010 2010
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
67 0.882 0.120 7 143342013 missense variant T/A snv 1.6E-05 0.700 1.000 20 1992 2016