rs104894718, SCN1B

N. diseases: 8
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.
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
5 0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06 0.800 1.000 3 1998 2011
Seizures
CUI: C0036572
Disease: Seizures
553 0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 17 1998 2016
Brugada Syndrome 5
CUI: C2748541
Disease: Brugada Syndrome 5
3 0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 6 1970 2019
ATRIAL FIBRILLATION, FAMILIAL, 13
CUI: C3809311
Disease: ATRIAL FIBRILLATION, FAMILIAL, 13
3 0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06 0.700 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
CUI: C4479236
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
4 0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06 0.700 0
Generalized Epilepsy with Febrile Seizures Plus
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
13 0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06 0.700 0
Epilepsy, Temporal Lobe
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
33 0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06 0.010 1.000 1 2007 2007
Hippocampal sclerosis
CUI: C1504404
Disease: Hippocampal sclerosis
14 0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06 0.010 1.000 1 2007 2007