rs104894718, SCN1B

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
0.800 CausalMutation CLINVAR
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
0.800 GeneticVariation CLINVAR
ATRIAL FIBRILLATION, FAMILIAL, 13
CUI: C3809311
Disease: ATRIAL FIBRILLATION, FAMILIAL, 13
0.700 GeneticVariation CLINVAR
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
CUI: C4479236
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
0.700 GeneticVariation CLINVAR
Generalized Epilepsy with Febrile Seizures Plus
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
0.700 CausalMutation CLINVAR
ATRIAL FIBRILLATION, FAMILIAL, 13
CUI: C3809311
Disease: ATRIAL FIBRILLATION, FAMILIAL, 13
0.700 CausalMutation CLINVAR
Brugada Syndrome 5
CUI: C2748541
Disease: Brugada Syndrome 5
0.700 GeneticVariation CLINVAR
Brugada Syndrome 5
CUI: C2748541
Disease: Brugada Syndrome 5
0.700 CausalMutation CLINVAR β1-C121W Is Down But Not Out: Epilepsy-Associated Scn1b-C121W Results in a Deleterious Gain-of-Function. 27277800 2016
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. 14504340 2003
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR A thermoprotective role of the sodium channel β1 subunit is lost with the β1 (C121W) mutation. 22292491 2012
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain. 9539778 1998
Epilepsy, Temporal Lobe
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
0.010 GeneticVariation BEFREE All individuals with confirmed TLE had the C121W mutation; two underwent temporal lobectomy (one with hippocampal sclerosis and one without) and both are seizure free. 17020904 2007
Hippocampal sclerosis
CUI: C1504404
Disease: Hippocampal sclerosis
0.010 GeneticVariation BEFREE All individuals with confirmed TLE had the C121W mutation; two underwent temporal lobectomy (one with hippocampal sclerosis and one without) and both are seizure free. 17020904 2007
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR All individuals with confirmed TLE had the C121W mutation; two underwent temporal lobectomy (one with hippocampal sclerosis and one without) and both are seizure free. 17020904 2007
Brugada Syndrome 5
CUI: C2748541
Disease: Brugada Syndrome 5
0.700 CausalMutation CLINVAR Arthroplasty of the temporomandibular joint. 5421039 1970
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR Crystal structure and molecular imaging of the Nav channel β3 subunit indicates a trimeric assembly. 24567321 2014
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
0.800 GeneticVariation UNIPROT Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. 9697698 1998
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. 9697698 1998
Brugada Syndrome 5
CUI: C2748541
Disease: Brugada Syndrome 5
0.700 CausalMutation CLINVAR Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. 9697698 1998
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. 12486163 2002
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR Functional modulation of voltage-dependent sodium channel expression by wild type and mutated C121W-β1 subunit. 23584539 2013
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 24623842 2014
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. 12011299 2002
Brugada Syndrome 5
CUI: C2748541
Disease: Brugada Syndrome 5
0.700 CausalMutation CLINVAR Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. 12011299 2002
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR Identification of an intra-molecular disulfide bond in the sodium channel β1-subunit. 22425777 2012