Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554774322
rs1554774322
KCNT1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs752514808
rs752514808
KCNT1
T 0.700 CausalMutation CLINVAR

dbSNP: rs866242631
rs866242631
KCNT1
T 0.700 CausalMutation CLINVAR De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 23086397

2012
dbSNP: rs866242631
rs866242631
KCNT1
T 0.700 CausalMutation CLINVAR Human slack potassium channel mutations increase positive cooperativity between individual channels. 25482562

2014
dbSNP: rs886043455
rs886043455
KCNT1 ; LOC107987139
T 0.700 CausalMutation CLINVAR A targeted resequencing gene panel for focal epilepsy. 27029629

2016
dbSNP: rs886043455
rs886043455
KCNT1 ; LOC107987139
T 0.700 CausalMutation CLINVAR Mutations in KCNT1 cause a spectrum of focal epilepsies. 26122718

2015
dbSNP: rs370521183
rs370521183
KCNT1
G 0.800 CausalMutation CLINVAR

dbSNP: rs1060503696
rs1060503696
KCNT1
G 0.700 CausalMutation CLINVAR

dbSNP: rs397515406
rs397515406
KCNT1
C 0.700 CausalMutation CLINVAR Quinidine in the treatment of KCNT1-positive epilepsies. 26369628

2015
dbSNP: rs397515406
rs397515406
KCNT1
C 0.700 CausalMutation CLINVAR Regional Specificity of GABAergic Regulation of Cross-Modal Plasticity in Mouse Visual Cortex after Unilateral Enucleation. 26269628

2015
dbSNP: rs397515406
rs397515406
KCNT1
C 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: rs397515406
rs397515406
KCNT1
C 0.700 CausalMutation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979

2015
dbSNP: rs397515406
rs397515406
KCNT1
C 0.700 CausalMutation CLINVAR KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. 24591078

2014
dbSNP: rs397515406
rs397515406
KCNT1
C 0.700 CausalMutation CLINVAR Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. 23086396

2012
dbSNP: rs397515402
rs397515402
KCNT1
A 0.800 CausalMutation CLINVAR De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 23086397

2012
dbSNP: rs397515402
rs397515402
KCNT1
A 0.800 CausalMutation CLINVAR KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. 24591078

2014
dbSNP: rs397515403
rs397515403
KCNT1
A 0.800 CausalMutation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs397515403
rs397515403
KCNT1
A 0.800 CausalMutation CLINVAR De novo KCNT1 mutations in early-onset epileptic encephalopathy. 26140313

2015
dbSNP: rs397515403
rs397515403
KCNT1
A 0.800 CausalMutation CLINVAR KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. 24591078

2014
dbSNP: rs397515403
rs397515403
KCNT1
A 0.800 CausalMutation CLINVAR Mutations in KCNT1 cause a spectrum of focal epilepsies. 26122718

2015
dbSNP: rs397515403
rs397515403
KCNT1
A 0.800 CausalMutation CLINVAR Human slack potassium channel mutations increase positive cooperativity between individual channels. 25482562

2014
dbSNP: rs397515403
rs397515403
KCNT1
A 0.800 CausalMutation CLINVAR De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 23086397

2012
dbSNP: rs397515404
rs397515404
KCNT1
A 0.800 CausalMutation CLINVAR De novo KCNT1 mutations in early-onset epileptic encephalopathy. 26140313

2015
dbSNP: rs397515404
rs397515404
KCNT1
A 0.800 GeneticVariation CLINVAR

dbSNP: rs397515404
rs397515404
KCNT1
A 0.800 CausalMutation CLINVAR De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 23086397

2012