rs797045032, CLCN1

N. diseases: 11
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.
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
67 0.827 0.280 7 143321720 missense variant GG/TC mnv 0.800 1.000 9 2010 2016
Generalized Myotonia of Thomsen
CUI: C2936781
Disease: Generalized Myotonia of Thomsen
61 0.827 0.280 7 143321720 missense variant GG/TC mnv 0.710 1.000 8 2010 2015
EMG: myotonic discharges
CUI: C4022169
Disease: EMG: myotonic discharges
3 0.827 0.280 7 143321720 missense variant GG/TC mnv 0.700 0
Headache
CUI: C0018681
Disease: Headache
75 0.827 0.280 7 143321720 missense variant GG/TC mnv 0.700 0
Muscle Rigidity
CUI: C0026837
Disease: Muscle Rigidity
25 0.827 0.280 7 143321720 missense variant GG/TC mnv 0.700 0
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
680 0.827 0.280 7 143321720 missense variant GG/TC mnv 0.700 0
Myotonia of the upper limb
CUI: C4022683
Disease: Myotonia of the upper limb
2 0.827 0.280 7 143321720 missense variant GG/TC mnv 0.700 0
Vertigo
CUI: C0042571
Disease: Vertigo
35 0.827 0.280 7 143321720 missense variant GG/TC mnv 0.700 0
Depressed mood
CUI: C0344315
Disease: Depressed mood
269 0.827 0.280 7 143321720 missense variant GG/TC mnv 0.010 1.000 1 2013 2013
Depressive disorder
CUI: C0011581
Disease: Depressive disorder
297 0.827 0.280 7 143321720 missense variant GG/TC mnv 0.010 1.000 1 2013 2013
Mental Depression
CUI: C0011570
Disease: Mental Depression
271 0.827 0.280 7 143321720 missense variant GG/TC mnv 0.010 1.000 1 2013 2013