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: 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 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 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 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 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 A screening test for the prediction of Dravet syndrome before one year of age. 18076640 2008
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