Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515404
rs397515404
KCNT1
A 0.800 CausalMutation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014
dbSNP: rs397515404
rs397515404
KCNT1
0.800 GeneticVariation UNIPROT Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. 24463883

2014
dbSNP: rs397515404
rs397515404
KCNT1
A 0.800 CausalMutation CLINVAR Human slack potassium channel mutations increase positive cooperativity between individual channels. 25482562

2014
dbSNP: rs587777264
rs587777264
KCNT1
0.800 GeneticVariation UNIPROT Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. 24463883

2014
dbSNP: rs370521183
rs370521183
KCNT1
0.800 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
dbSNP: rs370521183
rs370521183
KCNT1
0.800 GeneticVariation UNIPROT A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 24029078

2013
dbSNP: rs397515402
rs397515402
KCNT1
0.800 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
dbSNP: rs397515402
rs397515402
KCNT1
0.800 GeneticVariation UNIPROT A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 24029078

2013
dbSNP: rs397515403
rs397515403
KCNT1
0.800 GeneticVariation UNIPROT A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 24029078

2013
dbSNP: rs397515403
rs397515403
KCNT1
0.800 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
dbSNP: rs397515404
rs397515404
KCNT1
0.800 GeneticVariation UNIPROT A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 24029078

2013
dbSNP: rs397515404
rs397515404
KCNT1
0.800 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
dbSNP: rs587777264
rs587777264
KCNT1
0.800 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
dbSNP: rs587777264
rs587777264
KCNT1
A 0.800 CausalMutation CLINVAR A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 24029078

2013
dbSNP: rs587777264
rs587777264
KCNT1
0.800 GeneticVariation UNIPROT A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 24029078

2013
dbSNP: rs370521183
rs370521183
KCNT1
0.800 GeneticVariation UNIPROT 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 De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 23086397

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

2012
dbSNP: rs397515403
rs397515403
KCNT1
0.800 GeneticVariation UNIPROT De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 23086397

2012
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 gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 23086397

2012
dbSNP: rs397515404
rs397515404
KCNT1
0.800 GeneticVariation UNIPROT De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 23086397

2012
dbSNP: rs587777264
rs587777264
KCNT1
0.800 GeneticVariation UNIPROT De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 23086397

2012
dbSNP: rs370521183
rs370521183
KCNT1
G 0.800 CausalMutation CLINVAR

dbSNP: rs397515404
rs397515404
KCNT1
A 0.800 GeneticVariation CLINVAR