Gene: SCN1A-AS1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918741
rs121918741
SCN1A ; SCN1A-AS1 ; LOC102724058
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: rs121918742
rs121918742
SCN1A ; SCN1A-AS1 ; LOC102724058
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: rs121918763
rs121918763
SCN1A ; SCN1A-AS1 ; LOC102724058
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: rs121918770
rs121918770
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: rs121918773
rs121918773
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: rs121918775
rs121918775
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: rs121918785
rs121918785
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: rs794726711
rs794726711
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: rs794726713
rs794726713
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: rs794726755
rs794726755
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: rs794726782
rs794726782
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: rs794726789
rs794726789
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: rs794726797
rs794726797
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: rs794726811
rs794726811
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: rs794726839
rs794726839
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: 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 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 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 Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
dbSNP: rs121918775
rs121918775
SCN1A ; SCN1A-AS1
A 0.800 CausalMutation CLINVAR Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 23195492

2012
dbSNP: rs121918791
rs121918791
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.800 CausalMutation CLINVAR Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression. 23086956

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: rs121917971
rs121917971
SCN1A ; SCN1A-AS1
T 0.800 CausalMutation CLINVAR Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. 21864321

2011
dbSNP: rs121917971
rs121917971
SCN1A ; SCN1A-AS1
T 0.800 CausalMutation CLINVAR Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene. 21371021

2011