rs55960271, CLCN1

N. diseases: 5
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 143351678 stop gained C/A;T snv 4.0E-06; 2.9E-03 0.710 1.000 20 1994 2016
Myotonia Congenita
CUI: C0027127
Disease: Myotonia Congenita
38 0.882 0.120 7 143351678 stop gained C/A;T snv 4.0E-06; 2.9E-03 0.710 1.000 4 1995 2008
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
67 0.882 0.120 7 143351678 stop gained C/A;T snv 4.0E-06; 2.9E-03 0.700 1.000 18 1994 2016
EMG: myopathic abnormalities
CUI: C4021726
Disease: EMG: myopathic abnormalities
16 0.882 0.120 7 143351678 stop gained C/A;T snv 4.0E-06; 2.9E-03 0.700 0
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.882 0.120 7 143351678 stop gained C/A;T snv 4.0E-06; 2.9E-03 0.700 0