Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10174400
rs10174400 		1.000 0.040 2 165268709 non coding transcript exon variant C/T snv 0.38
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs121917748
rs121917748 		0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05
CUI: C0863106
Disease: Afebrile seizure
Afebrile seizure 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs121917748
rs121917748 		0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs121917748
rs121917748 		0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05
CUI: C0015967
Disease: Fever
Fever 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2002 2002
dbSNP: rs121917750
rs121917750 		0.925 0.080 2 165386881 missense variant C/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs16850331
rs16850331 		0.925 0.080 2 165292743 intron variant C/T snv 0.23
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs16850331
rs16850331 		0.925 0.080 2 165292743 intron variant C/T snv 0.23
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs17183814
rs17183814 		0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs17183814
rs17183814 		0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs17183814
rs17183814 		0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs17183814
rs17183814 		0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
Generalized Epilepsy with Febrile Seizures Plus 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs17183814
rs17183814 		0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2304016
rs2304016 		0.925 0.040 2 165311993 intron variant A/G snv 1.2E-02 4.8E-03
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2304016
rs2304016 		0.925 0.040 2 165311993 intron variant A/G snv 1.2E-02 4.8E-03
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs370114048
rs370114048 		0.882 0.080 2 165310541 missense variant A/G;T snv 4.0E-06
CUI: C0037769
Disease: West Syndrome
West Syndrome 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs370114048
rs370114048 		0.882 0.080 2 165310541 missense variant A/G;T snv 4.0E-06
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs370114048
rs370114048 		0.882 0.080 2 165310541 missense variant A/G;T snv 4.0E-06
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs373780066
rs373780066 		1.000 0.040 2 165354655 missense variant T/C snv
CUI: C4049262
Disease: Febrile infection related epilepsy syndrome
Febrile infection related epilepsy syndrome 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs387906683
rs387906683 		0.882 0.040 2 165297053 stop gained C/T snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs387906683
rs387906683 		0.882 0.040 2 165297053 stop gained C/T snv
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		Nervous System Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs387906685
rs387906685 		0.925 0.040 2 165380702 missense variant A/C;G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3943809
rs3943809 		0.925 0.080 2 165344371 intron variant A/G snv 0.20
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3943809
rs3943809 		0.925 0.080 2 165344371 intron variant A/G snv 0.20
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs771844443
rs771844443 		1.000 0.040 2 165309194 missense variant A/G snv 4.0E-06
CUI: C0235820
Disease: Neonatal encephalopathy
Neonatal encephalopathy 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs771844443
rs771844443 		1.000 0.040 2 165309194 missense variant A/G snv 4.0E-06
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		Nervous System Diseases 0.010 1.000 1 2018 2018