Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917927
rs121917927
SCN1A ; SCN1A-AS1
G 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs121917927
rs121917927
SCN1A ; SCN1A-AS1
G 0.700 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
dbSNP: rs121917927
rs121917927
SCN1A ; SCN1A-AS1
G 0.700 CausalMutation CLINVAR Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome. 22848613

2012
dbSNP: rs121917927
rs121917927
SCN1A ; SCN1A-AS1
G 0.700 CausalMutation CLINVAR Dravet syndrome: seizure control and gait in adults with different SCN1A mutations. 22780858

2012
dbSNP: rs121917927
rs121917927
SCN1A ; SCN1A-AS1
G 0.700 CausalMutation CLINVAR A catalog of SCN1A variants. 18804930

2009
dbSNP: rs121917927
rs121917927
SCN1A ; SCN1A-AS1
G 0.700 CausalMutation CLINVAR Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. 18930999

2009
dbSNP: rs121917927
rs121917927
SCN1A ; SCN1A-AS1
G 0.700 CausalMutation CLINVAR Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. 17054684

2006
dbSNP: rs121917927
rs121917927
SCN1A ; SCN1A-AS1
G 0.700 CausalMutation CLINVAR De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. 12754708

2003