Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917951
rs121917951
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405 2015
dbSNP: rs121917951
rs121917951
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 GeneticVariation CLINVAR Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. 17054684 2006
dbSNP: rs121917951
rs121917951
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 GeneticVariation CLINVAR A catalog of SCN1A variants. 18804930 2009
dbSNP: rs121918775
rs121918775
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 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
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 CausalMutation CLINVAR Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. 27781031 2016
dbSNP: rs121918775
rs121918775
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 CausalMutation CLINVAR Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. 21864321 2011
dbSNP: rs121918775
rs121918775
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 CausalMutation CLINVAR A catalog of SCN1A variants. 18804930 2009
dbSNP: rs121918775
rs121918775
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 CausalMutation CLINVAR Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 23195492 2012
dbSNP: rs121918775
rs121918775
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 CausalMutation CLINVAR Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene. 21371021 2011
dbSNP: rs121918775
rs121918775
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405 2015
dbSNP: rs121918793
rs121918793
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405 2015
dbSNP: rs121918793
rs121918793
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 CausalMutation CLINVAR Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. 28102150 2017
dbSNP: rs121918793
rs121918793
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 CausalMutation CLINVAR Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. 28708303 2018
dbSNP: rs121918793
rs121918793
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 CausalMutation CLINVAR Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. 12083760 2002
dbSNP: rs121918793
rs121918793
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 CausalMutation CLINVAR A catalog of SCN1A variants. 18804930 2009
dbSNP: rs121918793
rs121918793
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 CausalMutation CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271 2011
dbSNP: rs121918793
rs121918793
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 CausalMutation CLINVAR A screening test for the prediction of Dravet syndrome before one year of age. 18076640 2008
dbSNP: rs148442069
rs148442069
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 GeneticVariation CLINVAR A catalog of SCN1A variants. 18804930 2009
dbSNP: rs148442069
rs148442069
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 GeneticVariation CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271 2011
dbSNP: rs148442069
rs148442069
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405 2015
dbSNP: rs1553519902
rs1553519902
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 GeneticVariation CLINVAR Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. 17054685 2006
dbSNP: rs1553519902
rs1553519902
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 GeneticVariation CLINVAR Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. 12083760 2002
dbSNP: rs1553519902
rs1553519902
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 GeneticVariation CLINVAR Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations. 28202706 2017
dbSNP: rs1553519902
rs1553519902
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 GeneticVariation CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271 2011
dbSNP: rs1553519902
rs1553519902
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 GeneticVariation CLINVAR Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. 28102150 2017