Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587780455
rs587780455
SCN8A
0.800 GeneticVariation UNIPROT Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. 26677014

2016
dbSNP: rs587780455
rs587780455
SCN8A
0.800 GeneticVariation UNIPROT Autosomal dominant SCN8A mutation with an unusually mild phenotype. 27210545

2016
dbSNP: rs879255652
rs879255652
SCN8A
0.800 GeneticVariation UNIPROT Autosomal dominant SCN8A mutation with an unusually mild phenotype. 27210545

2016
dbSNP: rs879255652
rs879255652
SCN8A
0.800 GeneticVariation UNIPROT Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. 26677014

2016
dbSNP: rs587780455
rs587780455
SCN8A
G 0.800 CausalMutation CLINVAR

dbSNP: rs879255652
rs879255652
SCN8A
A 0.800 CausalMutation CLINVAR

dbSNP: rs797045013
rs797045013
SCN8A
T 0.700 GeneticVariation CLINVAR A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. 24874546

2014
dbSNP: rs1064794727
rs1064794727
SCN8A
C 0.700 GeneticVariation CLINVAR

dbSNP: rs796052676
rs796052676
KCNQ3
A 0.700 CausalMutation CLINVAR

dbSNP: rs886044328
rs886044328
SCN8A
A 0.700 GeneticVariation CLINVAR