Gene: SCN1A-AS1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs121917929
rs121917929
SCN1A ; SCN1A-AS1
A 0.800 CausalMutation CLINVAR

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

dbSNP: rs121917959
rs121917959
SCN1A ; SCN1A-AS1
A 0.800 GeneticVariation CLINVAR

dbSNP: rs121917965
rs121917965
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: rs121917984
rs121917984
SCN1A ; SCN1A-AS1
A 0.800 CausalMutation CLINVAR

dbSNP: rs121918625
rs121918625
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.800 CausalMutation CLINVAR

dbSNP: rs121918629
rs121918629
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.800 CausalMutation CLINVAR

dbSNP: rs121918630
rs121918630
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.800 CausalMutation CLINVAR

dbSNP: rs121918736
rs121918736
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: rs121918768
rs121918768
SCN1A ; SCN1A-AS1
A 0.800 CausalMutation CLINVAR De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. 19589774

2010
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: rs121918775
rs121918775
SCN1A ; SCN1A-AS1
A 0.800 CausalMutation CLINVAR Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. 21864321

2011
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: rs121918775
rs121918775
SCN1A ; SCN1A-AS1
A 0.800 CausalMutation CLINVAR Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort. 15508916

2005
dbSNP: rs121918775
rs121918775
SCN1A ; SCN1A-AS1
A 0.800 CausalMutation CLINVAR Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). 14738421

2004
dbSNP: rs121918775
rs121918775
SCN1A ; SCN1A-AS1
A 0.800 CausalMutation CLINVAR Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity. 15277629

2004
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 Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. 12083760

2002