Gene: SCN1A-AS1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794726816
rs794726816
SCN1A ; SCN1A-AS1 ; LOC102724058
C 0.700 CausalMutation CLINVAR Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. 18930999

2009
dbSNP: rs794726816
rs794726816
SCN1A ; SCN1A-AS1 ; LOC102724058
C 0.700 CausalMutation CLINVAR The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258

2007
dbSNP: rs794726799
rs794726799
SCN1A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR Pitfalls in genetic testing: the story of missed SCN1A mutations. 27465585

2016
dbSNP: rs794726799
rs794726799
SCN1A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings. 23808377

2013
dbSNP: rs794726799
rs794726799
SCN1A ; SCN1A-AS1
A 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: rs794726778
rs794726778
SCN1A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy. 18554359

2008
dbSNP: rs794726763
rs794726763
SCN1A ; SCN1A-AS1 ; LOC102724058
G 0.700 CausalMutation CLINVAR A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 29186148

2017
dbSNP: rs794726763
rs794726763
SCN1A ; SCN1A-AS1 ; LOC102724058
G 0.700 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
dbSNP: rs794726763
rs794726763
SCN1A ; SCN1A-AS1 ; LOC102724058
G 0.700 CausalMutation CLINVAR A catalog of SCN1A variants. 18804930

2009
dbSNP: rs794726763
rs794726763
SCN1A ; SCN1A-AS1 ; LOC102724058
G 0.700 CausalMutation CLINVAR Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 23195492

2012
dbSNP: rs794726763
rs794726763
SCN1A ; SCN1A-AS1 ; LOC102724058
G 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs794726762
rs794726762
SCN1A ; SCN1A-AS1
T 0.700 CausalMutation CLINVAR Association of severe myoclonic epilepsy of infancy (SMEI) with probable autoimmune lymphoproliferative syndrome-variant. 25669891

2014
dbSNP: rs794726762
rs794726762
SCN1A ; SCN1A-AS1
T 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: rs794726744
rs794726744
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 CausalMutation CLINVAR The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258

2007
dbSNP: rs794726744
rs794726744
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 CausalMutation CLINVAR Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. 12821740

2003
dbSNP: rs794726744
rs794726744
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 CausalMutation CLINVAR Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations. 24168886

2014
dbSNP: rs794726744
rs794726744
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 CausalMutation CLINVAR Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. 18930999

2009
dbSNP: rs794726744
rs794726744
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 CausalMutation CLINVAR Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. 14504318

2003
dbSNP: rs794726744
rs794726744
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 CausalMutation CLINVAR Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings. 23808377

2013
dbSNP: rs794726695
rs794726695
SCN1A ; SCN1A-AS1
CA 0.700 CausalMutation CLINVAR

dbSNP: rs398123585
rs398123585
SCN1A ; SCN1A-AS1
A 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: rs398123585
rs398123585
SCN1A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR Silencer region of a chalcone synthase promoter contains multiple binding sites for a factor, SBF-1, closely related to GT-1. 1893099

1991
dbSNP: rs398123585
rs398123585
SCN1A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. 16458823

2006
dbSNP: rs1559249734
rs1559249734
SCN1A ; SCN1A-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1559245847
rs1559245847
SCN1A ; SCN1A-AS1
G 0.700 GeneticVariation CLINVAR