rs1057518671
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057519530
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057519531
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057519533
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057519534
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121917915
|
|
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 |
rs121917915
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs121917918
|
|
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 |
rs121917921
|
|
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 |
rs121917922
|
|
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 |
rs121917922
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs121917923
|
|
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 |
rs121917927
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
|
23195492 |
2012 |
rs121917927
|
|
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 |
rs121917927
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.
|
17054685 |
2006 |
rs121917927
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.
|
12754708 |
2003 |
rs121917927
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.
|
20431604 |
2010 |
rs121917927
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Dravet syndrome: seizure control and gait in adults with different SCN1A mutations.
|
22780858 |
2012 |
rs121917927
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations.
|
24168886 |
2014 |
rs121917927
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
|
22612257 |
2012 |
rs121917927
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Genotype-phenotype associations in SCN1A-related epilepsies.
|
21248271 |
2011 |
rs121917927
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
|
21703448 |
2011 |
rs121917927
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
|
17561957 |
2007 |
rs121917929
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121917935
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|