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: rs104894718
rs104894718
0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.800 1.000 3 1998 2011
dbSNP: rs1135401736
rs1135401736
0.882 0.040 19 35033664 missense variant C/T snv 7.0E-06
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
0.800 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: 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: rs759839781
rs759839781
1.000 0.080 19 35033665 missense variant G/A;T snv
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 1998 2011
dbSNP: rs138450474
rs138450474
1.000 0.040 19 35039140 missense variant G/A;C snv 2.0E-05
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs72550247
rs72550247
0.925 0.080 19 35039125 missense variant G/A snv 6.0E-05 8.4E-05
CUI: C3809311
Disease: ATRIAL FIBRILLATION, FAMILIAL, 13
ATRIAL FIBRILLATION, FAMILIAL, 13
0.700 1.000 1 2009 2009
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
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
Generalized Epilepsy with Febrile Seizures Plus
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057519457
rs1057519457
19 35033599 missense variant A/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
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
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs16969925
rs16969925
0.807 0.160 19 35033545 missense variant G/A snv 8.0E-06 2.1E-05
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
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: C2748541
Disease: Brugada Syndrome 5
Brugada Syndrome 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs193922728
rs193922728
19 35034042 missense variant G/A snv 6.5E-06
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change
0.700 0
dbSNP: rs267607028
rs267607028
0.925 0.080 19 35033827 stop gained G/A snv 8.0E-06
CUI: C2748541
Disease: Brugada Syndrome 5
Brugada Syndrome 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs267607029
rs267607029
0.925 0.080 19 35033828 stop gained G/A snv
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs724159982
rs724159982
1.000 0.080 19 35033497 splice acceptor variant A/C snv
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
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs931949929
rs931949929
0.882 0.040 19 35033607 missense variant A/G;T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
0.700 0
dbSNP: rs1135401736
rs1135401736
0.882 0.040 19 35033664 missense variant C/T snv 7.0E-06
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
Nervous System Diseases 0.020 1.000 2 2009 2012
dbSNP: rs1135401736
rs1135401736
0.882 0.040 19 35033664 missense variant C/T snv 7.0E-06
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy
Nervous System Diseases 0.020 1.000 2 2009 2012
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