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: rs724159982
rs724159982 		1.000 0.080 19 35033497 splice acceptor variant A/C snv
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs786205830
rs786205830 		1.000 0.080 19 35033544 missense variant C/T snv
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs16969925
rs16969925 		0.807 0.160 19 35033545 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs16969925
rs16969925 		0.807 0.160 19 35033545 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs16969925
rs16969925 		0.807 0.160 19 35033545 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C4479236
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 		0.700 0
dbSNP: rs16969925
rs16969925 		0.807 0.160 19 35033545 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs16969925
rs16969925 		0.807 0.160 19 35033545 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C3809311
Disease: ATRIAL FIBRILLATION, FAMILIAL, 13
ATRIAL FIBRILLATION, FAMILIAL, 13 		0.800 0
dbSNP: rs16969925
rs16969925 		0.807 0.160 19 35033545 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C2748541
Disease: Brugada Syndrome 5
Brugada Syndrome 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs121434627
rs121434627 		1.000 0.080 19 35033550 stop gained G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C2748542
Disease: CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs766910280
rs766910280 		0.882 0.040 19 35033556 missense variant C/T snv 1.2E-05 4.2E-05
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs766910280
rs766910280 		0.882 0.040 19 35033556 missense variant C/T snv 1.2E-05 4.2E-05
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs766910280
rs766910280 		0.882 0.040 19 35033556 missense variant C/T snv 1.2E-05 4.2E-05
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1057519457
rs1057519457 		19 35033599 missense variant A/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs931949929
rs931949929 		0.882 0.040 19 35033607 missense variant A/G;T snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs931949929
rs931949929 		0.882 0.040 19 35033607 missense variant A/G;T snv
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs931949929
rs931949929 		0.882 0.040 19 35033607 missense variant A/G;T snv
CUI: C4479236
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 		0.700 0
dbSNP: rs104894718
rs104894718 		0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 17 1998 2016
dbSNP: rs104894718
rs104894718 		0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06
CUI: C2748541
Disease: Brugada Syndrome 5
Brugada Syndrome 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 6 1970 2019
dbSNP: rs104894718
rs104894718 		0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.800 1.000 3 1998 2011
dbSNP: rs104894718
rs104894718 		0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis 		0.010 1.000 1 2007 2007
dbSNP: rs104894718
rs104894718 		0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs104894718
rs104894718 		0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06
CUI: C3809311
Disease: ATRIAL FIBRILLATION, FAMILIAL, 13
ATRIAL FIBRILLATION, FAMILIAL, 13 		0.700 0
dbSNP: rs104894718
rs104894718 		0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06
CUI: C4479236
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 		0.700 0
dbSNP: rs104894718
rs104894718 		0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
Generalized Epilepsy with Febrile Seizures Plus 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1135401736
rs1135401736 		0.882 0.040 19 35033664 missense variant C/T snv 7.0E-06
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.020 1.000 2 2009 2012