rs80356702, CLCN1

N. diseases: 9
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 143330868 missense variant G/A snv 4.0E-06 1.4E-05 0.800 1.000 4 1995 2015
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
67 0.882 0.120 7 143330868 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 4 1995 2015
EMG: myotonic runs
CUI: C4025576
Disease: EMG: myotonic runs
1 0.882 0.120 7 143330868 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0
EMG: neuropathic changes
CUI: C4021727
Disease: EMG: neuropathic changes
5 0.882 0.120 7 143330868 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0
Memory impairment
CUI: C0233794
Disease: Memory impairment
48 0.882 0.120 7 143330868 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
19 0.882 0.120 7 143330868 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0
Myotonia Congenita
CUI: C0027127
Disease: Myotonia Congenita
38 0.882 0.120 7 143330868 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0
Pain in limb
CUI: C0030196
Disease: Pain in limb
5 0.882 0.120 7 143330868 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0
Spasm
CUI: C0037763
Disease: Spasm
9 0.882 0.120 7 143330868 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0