Gene: SCN1A-AS1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519530
rs1057519530
SCN1A ; SCN1A-AS1
G 0.800 GeneticVariation CLINVAR

dbSNP: rs1057519533
rs1057519533
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.800 GeneticVariation CLINVAR

dbSNP: rs121917915
rs121917915
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.800 CausalMutation CLINVAR "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome." 26096185

2015
dbSNP: rs121917915
rs121917915
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.800 GeneticVariation CLINVAR

dbSNP: rs121917918
rs121917918
SCN1A ; SCN1A-AS1
T 0.800 CausalMutation CLINVAR "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome." 26096185

2015
dbSNP: rs121917921
rs121917921
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.800 CausalMutation CLINVAR "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome." 26096185

2015
dbSNP: rs121917922
rs121917922
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.800 CausalMutation CLINVAR "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome." 26096185

2015
dbSNP: rs121917922
rs121917922
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.800 GeneticVariation CLINVAR

dbSNP: rs121917923
rs121917923
SCN1A ; SCN1A-AS1
A 0.800 CausalMutation CLINVAR "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome." 26096185

2015
dbSNP: rs121917927
rs121917927
SCN1A ; SCN1A-AS1
T 0.800 CausalMutation CLINVAR Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 23195492

2012
dbSNP: rs121917927
rs121917927
SCN1A ; SCN1A-AS1
T 0.800 CausalMutation CLINVAR "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome." 26096185

2015
dbSNP: rs121917927
rs121917927
SCN1A ; SCN1A-AS1
T 0.800 CausalMutation CLINVAR Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. 17054685

2006
dbSNP: rs121917927
rs121917927
SCN1A ; SCN1A-AS1
T 0.800 CausalMutation CLINVAR De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. 12754708

2003
dbSNP: rs121917927
rs121917927
SCN1A ; SCN1A-AS1
T 0.800 CausalMutation CLINVAR Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. 20431604

2010
dbSNP: rs121917927
rs121917927
SCN1A ; SCN1A-AS1
T 0.800 CausalMutation CLINVAR Dravet syndrome: seizure control and gait in adults with different SCN1A mutations. 22780858

2012
dbSNP: rs121917927
rs121917927
SCN1A ; SCN1A-AS1
T 0.800 CausalMutation CLINVAR Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations. 24168886

2014
dbSNP: rs121917927
rs121917927
SCN1A ; SCN1A-AS1
T 0.800 CausalMutation CLINVAR Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
dbSNP: rs121917927
rs121917927
SCN1A ; SCN1A-AS1
T 0.800 CausalMutation CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271

2011
dbSNP: rs121917927
rs121917927
SCN1A ; SCN1A-AS1
T 0.800 CausalMutation CLINVAR Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. 21703448

2011
dbSNP: rs121917927
rs121917927
SCN1A ; SCN1A-AS1
T 0.800 CausalMutation CLINVAR Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 17561957

2007
dbSNP: rs121917929
rs121917929
SCN1A ; SCN1A-AS1
A 0.800 CausalMutation CLINVAR

dbSNP: rs121917935
rs121917935
SCN1A ; SCN1A-AS1
T 0.800 CausalMutation CLINVAR

dbSNP: rs121917937
rs121917937
SCN1A ; SCN1A-AS1
C 0.800 CausalMutation CLINVAR "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome." 26096185

2015
dbSNP: rs121917938
rs121917938
SCN1A ; SCN1A-AS1
G 0.800 CausalMutation CLINVAR "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome." 26096185

2015
dbSNP: rs121917945
rs121917945
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.800 GeneticVariation CLINVAR