Gene: SCN1A-AS1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1043031572
rs1043031572
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: rs1060502183
rs1060502183
SCN1A ; SCN1A-AS1 ; LOC102724058
C 0.700 CausalMutation CLINVAR

dbSNP: rs121917919
rs121917919
SCN1A ; SCN1A-AS1 ; LOC102724058
G 0.700 CausalMutation CLINVAR Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 17561957

2007
dbSNP: rs121917919
rs121917919
SCN1A ; SCN1A-AS1 ; LOC102724058
G 0.700 CausalMutation CLINVAR Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs121917937
rs121917937
SCN1A ; SCN1A-AS1
C 0.700 CausalMutation CLINVAR PCDH19 mutation in Japanese females with epilepsy. 22050978

2012
dbSNP: rs121917937
rs121917937
SCN1A ; SCN1A-AS1
C 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: rs121917937
rs121917937
SCN1A ; SCN1A-AS1
C 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs121917937
rs121917937
SCN1A ; SCN1A-AS1
C 0.700 CausalMutation CLINVAR A catalog of SCN1A variants. 18804930

2009
dbSNP: rs121917937
rs121917937
SCN1A ; SCN1A-AS1
C 0.700 CausalMutation CLINVAR Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. 12821740

2003
dbSNP: rs121917937
rs121917937
SCN1A ; SCN1A-AS1
C 0.700 CausalMutation CLINVAR De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. 19589774

2010
dbSNP: rs121917937
rs121917937
SCN1A ; SCN1A-AS1
C 0.700 CausalMutation CLINVAR Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. 17054685

2006
dbSNP: rs121917951
rs121917951
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 GeneticVariation CLINVAR Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. 17054684

2006
dbSNP: rs121917951
rs121917951
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 GeneticVariation CLINVAR A catalog of SCN1A variants. 18804930

2009
dbSNP: rs121917951
rs121917951
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs121917964
rs121917964
SCN1A ; SCN1A-AS1
C 0.700 GeneticVariation CLINVAR Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 23195492

2012
dbSNP: rs121917964
rs121917964
SCN1A ; SCN1A-AS1
C 0.700 GeneticVariation CLINVAR PCDH19 mutation in Japanese females with epilepsy. 22050978

2012
dbSNP: rs121917964
rs121917964
SCN1A ; SCN1A-AS1
C 0.700 GeneticVariation CLINVAR The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258

2007
dbSNP: rs121917981
rs121917981
SCN1A ; SCN1A-AS1 ; LOC102724058
C 0.700 CausalMutation CLINVAR Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome. 23895530

2013
dbSNP: rs121918764
rs121918764
SCN1A ; SCN1A-AS1 ; LOC102724058
C 0.700 CausalMutation CLINVAR

dbSNP: rs121918775
rs121918775
SCN1A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene. 21371021

2011
dbSNP: rs121918775
rs121918775
SCN1A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 23195492

2012
dbSNP: rs121918775
rs121918775
SCN1A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR A catalog of SCN1A variants. 18804930

2009
dbSNP: rs121918775
rs121918775
SCN1A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs121918775
rs121918775
SCN1A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. 21864321

2011
dbSNP: rs121918775
rs121918775
SCN1A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). 14738421

2004