Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767224097
rs767224097
SCN2A
0.700 GeneticVariation UNIPROT Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy. 29844171

2018
dbSNP: rs767224097
rs767224097
SCN2A
0.700 GeneticVariation UNIPROT Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies. 30144217

2018
dbSNP: rs1553567409
rs1553567409
SCN2A
T 0.700 GeneticVariation CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373

2017
dbSNP: rs1553567409
rs1553567409
SCN2A
T 0.700 CausalMutation CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373

2017
dbSNP: rs794727152
rs794727152
SCN2A
A 0.700 CausalMutation CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373

2017
dbSNP: rs794727152
rs794727152
SCN2A
A 0.700 CausalMutation CLINVAR A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 29186148

2017
dbSNP: rs796053126
rs796053126
SCN2A
A 0.700 CausalMutation CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373

2017
dbSNP: rs796053126
rs796053126
SCN2A
A 0.700 CausalMutation CLINVAR Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine. 27867041

2017
dbSNP: rs796053138
rs796053138
SCN2A
T 0.700 CausalMutation CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373

2017
dbSNP: rs796053156
rs796053156
SCN2A
A 0.700 CausalMutation CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373

2017
dbSNP: rs869312663
rs869312663
SCN2A
G 0.700 GeneticVariation CLINVAR Genomic diagnosis for children with intellectual disability and/or developmental delay. 28554332

2017
dbSNP: rs1553579225
rs1553579225
SCN2A
T 0.700 CausalMutation CLINVAR De novo genic mutations among a Chinese autism spectrum disorder cohort. 27824329

2016
dbSNP: rs190111194
rs190111194
SCN2A
T 0.700 GeneticVariation CLINVAR Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. 27781031

2016
dbSNP: rs796053126
rs796053126
SCN2A
A 0.700 CausalMutation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016
dbSNP: rs796053126
rs796053126
SCN2A
A 0.700 CausalMutation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs796053138
rs796053138
SCN2A
T 0.700 CausalMutation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs767224097
rs767224097
SCN2A
0.700 GeneticVariation UNIPROT SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. 26291284

2015
dbSNP: rs767224097
rs767224097
SCN2A
0.700 GeneticVariation UNIPROT Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755

2015
dbSNP: rs794727152
rs794727152
SCN2A
A 0.700 CausalMutation CLINVAR De novo R853Q mutation of SCN2A gene and West syndrome. 25772804

2015
dbSNP: rs767224097
rs767224097
SCN2A
0.700 GeneticVariation UNIPROT Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 23360469

2013
dbSNP: rs767224097
rs767224097
SCN2A
0.700 GeneticVariation UNIPROT An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current. 23758435

2013
dbSNP: rs794727152
rs794727152
SCN2A
A 0.700 CausalMutation CLINVAR Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. 23935176

2013
dbSNP: rs796053126
rs796053126
SCN2A
A 0.700 CausalMutation CLINVAR Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. 23935176

2013
dbSNP: rs767224097
rs767224097
SCN2A
0.700 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
dbSNP: rs767224097
rs767224097
SCN2A
0.700 GeneticVariation UNIPROT Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. 20371507

2010