Gene: SCN1A-AS1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918788
rs121918788
SCN1A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR Audit of use of stiripentol in adults with Dravet syndrome. 27231140

2017
dbSNP: rs121918788
rs121918788
SCN1A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome. 28079314

2017
dbSNP: rs1553520029
rs1553520029
SCN1A ; SCN1A-AS1 ; LOC102724058
C 0.700 GeneticVariation CLINVAR Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome. 28012175

2017
dbSNP: rs794726718
rs794726718
SCN1A ; SCN1A-AS1
T 0.700 CausalMutation CLINVAR Audit of use of stiripentol in adults with Dravet syndrome. 27231140

2017
dbSNP: rs794726718
rs794726718
SCN1A ; SCN1A-AS1
T 0.700 CausalMutation CLINVAR SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome. 28079314

2017
dbSNP: rs1553519872
rs1553519872
SCN1A ; SCN1A-AS1 ; LOC102724058
C 0.700 CausalMutation CLINVAR Pitfalls in genetic testing: the story of missed SCN1A mutations. 27465585

2016
dbSNP: rs1553520227
rs1553520227
SCN1A ; SCN1A-AS1 ; LOC102724058
G 0.700 CausalMutation CLINVAR Pitfalls in genetic testing: the story of missed SCN1A mutations. 27465585

2016
dbSNP: rs1553520227
rs1553520227
SCN1A ; SCN1A-AS1 ; LOC102724058
G 0.700 CausalMutation CLINVAR Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. 27781031

2016
dbSNP: rs1057523858
rs1057523858
SCN1A ; SCN1A-AS1
T 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs121917927
rs121917927
SCN1A ; SCN1A-AS1
G 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs121917953
rs121917953
SCN1A ; SCN1A-AS1
A 0.700 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs121917984
rs121917984
SCN1A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs121917984
rs121917984
SCN1A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298

2015
dbSNP: rs121918788
rs121918788
SCN1A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR Lamotrigine can be beneficial in patients with Dravet syndrome. 25243660

2015
dbSNP: rs121918788
rs121918788
SCN1A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs1553520227
rs1553520227
SCN1A ; SCN1A-AS1 ; LOC102724058
G 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs1553520320
rs1553520320
SCN1A ; SCN1A-AS1 ; LOC102724058
G 0.700 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs1553548096
rs1553548096
SCN1A ; SCN1A-AS1
C 0.700 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs1553560740
rs1553560740
SCN1A ; SCN1A-AS1
CCAT 0.700 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs794726711
rs794726711
SCN1A ; SCN1A-AS1
T 0.700 CausalMutation CLINVAR Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs794726711
rs794726711
SCN1A ; SCN1A-AS1
T 0.700 CausalMutation CLINVAR "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome." 26096185

2015
dbSNP: rs794726718
rs794726718
SCN1A ; SCN1A-AS1
T 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs794726718
rs794726718
SCN1A ; SCN1A-AS1
T 0.700 CausalMutation CLINVAR Lamotrigine can be beneficial in patients with Dravet syndrome. 25243660

2015
dbSNP: rs398123593
rs398123593
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 CausalMutation CLINVAR Long-term course of Dravet syndrome: a study from an epilepsy center in Japan. 24502503

2014
dbSNP: rs1057523858
rs1057523858
SCN1A ; SCN1A-AS1
T 0.700 CausalMutation CLINVAR Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study. 23762420

2013