Disease: Brugada Syndrome 5 ×
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: C2748541
Disease:
Brugada Syndrome 5 		G 0.700 CausalMutation CLINVAR Sodium Channel β Subunits in Epilepsy: Location, Location, Location. 28331474 2019
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: C2748541
Disease:
Brugada Syndrome 5 		G 0.700 CausalMutation CLINVAR Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. 17020904 2007
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C2748541
Disease:
Brugada Syndrome 5 		G 0.700 CausalMutation CLINVAR Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. 12011299 2002
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C2748541
Disease:
Brugada Syndrome 5 		G 0.700 CausalMutation CLINVAR 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: C2748541
Disease:
Brugada Syndrome 5 		G 0.700 CausalMutation CLINVAR Arthroplasty of the temporomandibular joint. 5421039 1970
dbSNP: rs104894718
rs104894718
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C2748541
Disease:
Brugada Syndrome 5 		G 0.700 GeneticVariation CLINVAR