Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918630
rs121918630
SCN1A ; SCN1A-AS1 ; LOC102724058
0.800 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
dbSNP: rs121918630
rs121918630
SCN1A ; SCN1A-AS1 ; LOC102724058
0.800 GeneticVariation UNIPROT Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 23195492

2012
dbSNP: rs121918630
rs121918630
SCN1A ; SCN1A-AS1 ; LOC102724058
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs121918630
rs121918630
SCN1A ; SCN1A-AS1 ; LOC102724058
0.800 GeneticVariation UNIPROT Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation. 17507202

2007
dbSNP: rs121918630
rs121918630
SCN1A ; SCN1A-AS1 ; LOC102724058
0.800 GeneticVariation UNIPROT Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. 16210358

2005
dbSNP: rs121918630
rs121918630
SCN1A ; SCN1A-AS1 ; LOC102724058
0.800 GeneticVariation UNIPROT Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. 12566275

2003