Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C1858672
Disease:
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		0.800 GeneticVariation UNIPROT New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures. 21040232 2011
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C1858672
Disease:
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		0.800 GeneticVariation UNIPROT Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant. 17928445 2007
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
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
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C1858672
Disease:
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C1858672
Disease:
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		G 0.800 GeneticVariation CLINVAR
dbSNP: rs1135401736
rs1135401736
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C4479236
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1135401736
rs1135401736
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C4479236
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 		0.800 GeneticVariation UNIPROT
dbSNP: rs16969925
rs16969925
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C3809311
Disease:
ATRIAL FIBRILLATION, FAMILIAL, 13 		0.800 GeneticVariation UNIPROT
dbSNP: rs16969925
rs16969925
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C3809311
Disease:
ATRIAL FIBRILLATION, FAMILIAL, 13 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C2748541
Disease:
Brugada Syndrome 5 		G 0.700 CausalMutation CLINVAR Sodium Channel β Subunits in Epilepsy: Location, Location, Location. 28331474 2019
dbSNP: rs138450474
rs138450474
Entrez Id: 3249;6324
Gene Symbol: HPN;SCN1B
HPN;SCN1B
CUI: C0376532
Disease:
Epilepsy, Rolandic 		C 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611 2018
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C2748541
Disease:
Brugada Syndrome 5 		G 0.700 CausalMutation CLINVAR β1-C121W Is Down But Not Out: Epilepsy-Associated Scn1b-C121W Results in a Deleterious Gain-of-Function. 27277800 2016
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR The goal of this study was to compare mice heterozygous for Scn1b-C121W (Scn1b(+/W)) with mice heterozygous for the Scn1b-null allele (Scn1b(+/-)) to determine whether the C121W mutation results in loss-of-function in vivo We found that Scn1b(+/W) mice were more susceptible than Scn1b(+/-) and Scn1b(+/+) mice to hyperthermia-induced convulsions, a model of pediatric febrile seizures. 27277800 2016
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR Crystal structure and molecular imaging of the Nav channel β3 subunit indicates a trimeric assembly. 24567321 2014
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 24623842 2014
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome. 24747835 2014
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR Functional modulation of voltage-dependent sodium channel expression by wild type and mutated C121W-β1 subunit. 23584539 2013
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR Presence of epilepsy-associated variants in large exome databases. 23527921 2013
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR Identification of an intra-molecular disulfide bond in the sodium channel β1-subunit. 22425777 2012
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 0.700 CausalMutation CLINVAR A thermoprotective role of the sodium channel β1 subunit is lost with the β1 (C121W) mutation. 22292491 2012
dbSNP: rs759839781
rs759839781
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C1858672
Disease:
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		0.700 GeneticVariation UNIPROT New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures. 21040232 2011
dbSNP: rs72550247
rs72550247
Entrez Id: 3249;6324
Gene Symbol: HPN;SCN1B
HPN;SCN1B
CUI: C3809311
Disease:
ATRIAL FIBRILLATION, FAMILIAL, 13 		0.700 GeneticVariation UNIPROT Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. 19808477 2009
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C0036572
Disease:
Seizures 		G 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
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C2748541
Disease:
Brugada Syndrome 5 		G 0.700 CausalMutation CLINVAR Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. 17020904 2007
dbSNP: rs759839781
rs759839781
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C1858672
Disease:
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		0.700 GeneticVariation UNIPROT Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant. 17928445 2007