Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 ×
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