Gene: SCN8A ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879255697
rs879255697
SCN8A
C 0.800 CausalMutation CLINVAR Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach. 26297079

2016
dbSNP: rs879255705
rs879255705
SCN8A
G 0.800 CausalMutation CLINVAR Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach. 26297079

2016
dbSNP: rs587777721
rs587777721
SCN8A
A 0.800 CausalMutation CLINVAR In response: SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. 26235739

2015
dbSNP: rs587777721
rs587777721
SCN8A
A 0.800 CausalMutation CLINVAR Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. 25046240

2015
dbSNP: rs587777721
rs587777721
SCN8A
A 0.800 CausalMutation CLINVAR The phenotypic spectrum of SCN8A encephalopathy. 25568300

2015
dbSNP: rs587780454
rs587780454
SCN8A
C 0.800 CausalMutation CLINVAR The phenotypic spectrum of SCN8A encephalopathy. 25568300

2015
dbSNP: rs587780586
rs587780586
SCN8A
A 0.800 CausalMutation CLINVAR SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. 25785782

2015
dbSNP: rs587780586
rs587780586
SCN8A
A 0.800 CausalMutation CLINVAR In response: SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. 26235739

2015
dbSNP: rs876657399
rs876657399
SCN8A
G 0.800 CausalMutation CLINVAR De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. 25725044

2015
dbSNP: rs879255697
rs879255697
SCN8A
C 0.800 CausalMutation CLINVAR The phenotypic spectrum of SCN8A encephalopathy. 25568300

2015
dbSNP: rs879255698
rs879255698
SCN8A
C 0.800 CausalMutation CLINVAR In response: SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. 26235739

2015
dbSNP: rs879255699
rs879255699
SCN8A
C 0.800 CausalMutation CLINVAR The phenotypic spectrum of SCN8A encephalopathy. 25568300

2015
dbSNP: rs879255702
rs879255702
SCN8A
A 0.800 CausalMutation CLINVAR In response: SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. 26235739

2015
dbSNP: rs879255702
rs879255702
SCN8A
A 0.800 CausalMutation CLINVAR The phenotypic spectrum of SCN8A encephalopathy. 25568300

2015
dbSNP: rs879255703
rs879255703
SCN8A
A 0.800 CausalMutation CLINVAR The phenotypic spectrum of SCN8A encephalopathy. 25568300

2015
dbSNP: rs879255704
rs879255704
SCN8A
G 0.800 CausalMutation CLINVAR Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation. 25799905

2015
dbSNP: rs879255705
rs879255705
SCN8A
G 0.800 CausalMutation CLINVAR In response: SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. 26235739

2015
dbSNP: rs879255709
rs879255709
SCN8A
A 0.800 CausalMutation CLINVAR The phenotypic spectrum of SCN8A encephalopathy. 25568300

2015
dbSNP: rs879255710
rs879255710
SCN8A
G 0.800 CausalMutation CLINVAR The phenotypic spectrum of SCN8A encephalopathy. 25568300

2015
dbSNP: rs587777721
rs587777721
SCN8A
A 0.800 CausalMutation CLINVAR Early onset epileptic encephalopathy caused by de novo SCN8A mutations. 24888894

2014
dbSNP: rs587777722
rs587777722
SCN8A
A 0.800 CausalMutation CLINVAR Early onset epileptic encephalopathy caused by de novo SCN8A mutations. 24888894

2014
dbSNP: rs587777723
rs587777723
SCN8A
C 0.800 CausalMutation CLINVAR Early onset epileptic encephalopathy caused by de novo SCN8A mutations. 24888894

2014
dbSNP: rs672601319
rs672601319
SCN8A
G 0.800 CausalMutation CLINVAR Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy. 25239001

2014
dbSNP: rs879255696
rs879255696
SCN8A
A 0.800 CausalMutation CLINVAR Early onset epileptic encephalopathy caused by de novo SCN8A mutations. 24888894

2014
dbSNP: rs879255700
rs879255700
SCN8A
C 0.800 CausalMutation CLINVAR Early onset epileptic encephalopathy caused by de novo SCN8A mutations. 24888894

2014