rs727502818, KCNC1

N. diseases: 26
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.
EPILEPSY, PROGRESSIVE MYOCLONIC 7
CUI: C4015420
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 7
3 0.790 0.160 11 17772053 missense variant G/A snv 0.800 1.000 2 2015 2017
Myoclonus
CUI: C0027066
Disease: Myoclonus
34 0.790 0.160 11 17772053 missense variant G/A snv 0.710 1.000 1 2018 2018
Cerebellar Dysmetria
CUI: C0234162
Disease: Cerebellar Dysmetria
17 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
Choking episodes
CUI: C4280747
Disease: Choking episodes
1 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
Dysdiadochokinesis
CUI: C0234979
Disease: Dysdiadochokinesis
7 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
27 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
Facial diplegia
CUI: C1836003
Disease: Facial diplegia
4 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
Fasciculation, Tongue
CUI: C0239548
Disease: Fasciculation, Tongue
7 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
Gait imbalance
CUI: C1836150
Disease: Gait imbalance
24 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
Generalized myoclonic seizures
CUI: C4021759
Disease: Generalized myoclonic seizures
8 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
Increased cup-to-disc ratio
CUI: C3805911
Disease: Increased cup-to-disc ratio
1 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
Irregular Menstruation
CUI: C0156404
Disease: Irregular Menstruation
3 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
Limb myoclonus
CUI: C4477055
Disease: Limb myoclonus
1 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
Menorrhagia
CUI: C0025323
Disease: Menorrhagia
6 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
121 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
19 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
Poor speech
CUI: C1848207
Disease: Poor speech
9 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
Reduced tendon reflexes
CUI: C1866934
Disease: Reduced tendon reflexes
8 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
Myoclonic Epilepsies, Progressive
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
17 0.790 0.160 11 17772053 missense variant G/A snv 0.020 1.000 2 2017 2019
Unverricht-Lundborg Syndrome
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
17 0.790 0.160 11 17772053 missense variant G/A snv 0.020 1.000 2 2015 2018
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.790 0.160 11 17772053 missense variant G/A snv 0.010 1.000 1 2017 2017
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.790 0.160 11 17772053 missense variant G/A snv 0.010 1.000 1 2017 2017
Myoclonus, Action
CUI: C0751354
Disease: Myoclonus, Action
1 0.790 0.160 11 17772053 missense variant G/A snv 0.010 1.000 1 2017 2017