Gene: SCN1A-AS1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918775
rs121918775
SCN1A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. 27781031

2016
dbSNP: rs121918793
rs121918793
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 CausalMutation CLINVAR Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. 28708303

2018
dbSNP: rs121918793
rs121918793
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs121918793
rs121918793
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 CausalMutation CLINVAR Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. 12083760

2002
dbSNP: rs121918793
rs121918793
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 CausalMutation CLINVAR A screening test for the prediction of Dravet syndrome before one year of age. 18076640

2008
dbSNP: rs121918793
rs121918793
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 CausalMutation CLINVAR Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. 28102150

2017
dbSNP: rs121918793
rs121918793
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 CausalMutation CLINVAR A catalog of SCN1A variants. 18804930

2009
dbSNP: rs121918793
rs121918793
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 CausalMutation CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271

2011
dbSNP: rs148442069
rs148442069
SCN1A ; SCN1A-AS1
A 0.700 GeneticVariation CLINVAR A catalog of SCN1A variants. 18804930

2009
dbSNP: rs148442069
rs148442069
SCN1A ; SCN1A-AS1
A 0.700 GeneticVariation CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271

2011
dbSNP: rs148442069
rs148442069
SCN1A ; SCN1A-AS1
A 0.700 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs1553519902
rs1553519902
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 GeneticVariation CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271

2011
dbSNP: rs1553519902
rs1553519902
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 GeneticVariation CLINVAR Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. 17054685

2006
dbSNP: rs1553519902
rs1553519902
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 GeneticVariation CLINVAR Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations. 28202706

2017
dbSNP: rs1553519902
rs1553519902
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 GeneticVariation CLINVAR Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. 12083760

2002
dbSNP: rs1553519902
rs1553519902
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 GeneticVariation CLINVAR Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. 28102150

2017
dbSNP: rs1553520439
rs1553520439
SCN1A ; SCN1A-AS1 ; LOC102724058
G 0.700 GeneticVariation CLINVAR A catalog of SCN1A variants. 18804930

2009
dbSNP: rs1553520439
rs1553520439
SCN1A ; SCN1A-AS1 ; LOC102724058
G 0.700 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs1553521567
rs1553521567
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 CausalMutation CLINVAR The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258

2007
dbSNP: rs1553521567
rs1553521567
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: rs1553525313
rs1553525313
SCN1A ; SCN1A-AS1 ; LOC102724058
G 0.700 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs1553525313
rs1553525313
SCN1A ; SCN1A-AS1 ; LOC102724058
G 0.700 GeneticVariation CLINVAR A catalog of SCN1A variants. 18804930

2009
dbSNP: rs1553540503
rs1553540503
SCN1A ; SCN1A-AS1 ; LOC102724058
T 0.700 CausalMutation CLINVAR Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. 12566275

2003
dbSNP: rs1553540503
rs1553540503
SCN1A ; SCN1A-AS1 ; LOC102724058
T 0.700 CausalMutation CLINVAR Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. 16210358

2005
dbSNP: rs1553546763
rs1553546763
SCN1A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR