Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR Dravet syndrome--from epileptic encephalopathy to channelopathy. 24836964

2014
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR Structure and function of voltage-gated sodium channels at atomic resolution. 24097157

2014
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. 22719002

2012
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR Progressive gait deterioration in adolescents with Dravet syndrome. 22409937

2012
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief. 21463290

2011
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients. 21269283

2011
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271

2011
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR Timing of de novo mutagenesis--a twin study of sodium-channel mutations. 20879882

2010
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. 19400878

2009
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. 18930999

2009
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. 18413471

2008
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 17561957

2007
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258

2007
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. 16430863

2006
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR SCN1A mutations and epilepsy. 15880351

2005
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR Severe myoclonic epilepsy in infancy: Dravet syndrome. 15508915

2005
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. 11359211

2001
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. 10742094

2000
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. 9126059

1997