Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs370521183
rs370521183
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		G 0.800 CausalMutation CLINVAR
dbSNP: rs397515404
rs397515404
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs1057519544
rs1057519544
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		0.700 GeneticVariation UNIPROT
dbSNP: rs1060503696
rs1060503696
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1060503696
rs1060503696
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1185192267
rs1185192267
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		0.700 GeneticVariation UNIPROT
dbSNP: rs1554774322
rs1554774322
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs752514808
rs752514808
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		T 0.700 CausalMutation CLINVAR
dbSNP: rs752514808
rs752514808
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041691
rs886041691
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		0.700 GeneticVariation UNIPROT
dbSNP: rs397515406
rs397515406
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		C 0.800 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
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		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: rs370521183
rs370521183
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		0.800 GeneticVariation UNIPROT A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 24029078 2013
dbSNP: rs397515402
rs397515402
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		0.800 GeneticVariation UNIPROT A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 24029078 2013
dbSNP: rs397515403
rs397515403
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		0.800 GeneticVariation UNIPROT A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 24029078 2013
dbSNP: rs397515404
rs397515404
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		0.800 GeneticVariation UNIPROT A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 24029078 2013
dbSNP: rs587777264
rs587777264
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		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
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		0.800 GeneticVariation UNIPROT A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 24029078 2013
dbSNP: rs1424788778
rs1424788778
Entrez Id: 57582;107987139
Gene Symbol: KCNT1;LOC107987139
KCNT1;LOC107987139
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		0.700 GeneticVariation UNIPROT A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 24029078 2013
dbSNP: rs587777264
rs587777264
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.700 CausalMutation CLINVAR A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 24029078 2013
dbSNP: rs886043455
rs886043455
Entrez Id: 57582;107987139
Gene Symbol: KCNT1;LOC107987139
KCNT1;LOC107987139
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		T 0.700 CausalMutation CLINVAR A targeted resequencing gene panel for focal epilepsy. 27029629 2016
dbSNP: rs886043455
rs886043455
Entrez Id: 57582;107987139
Gene Symbol: KCNT1;LOC107987139
KCNT1;LOC107987139
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.700 CausalMutation CLINVAR A targeted resequencing gene panel for focal epilepsy. 27029629 2016
dbSNP: rs886043455
rs886043455
Entrez Id: 57582;107987139
Gene Symbol: KCNT1;LOC107987139
KCNT1;LOC107987139
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		T 0.700 CausalMutation CLINVAR A targeted resequencing gene panel for focal epilepsy. 27029629 2016
dbSNP: rs886043455
rs886043455
Entrez Id: 57582;107987139
Gene Symbol: KCNT1;LOC107987139
KCNT1;LOC107987139
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.700 CausalMutation CLINVAR A targeted resequencing gene panel for focal epilepsy. 27029629 2016
dbSNP: rs886044717
rs886044717
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C4552072
Disease:
X-linked infantile spasms 		0.010 GeneticVariation BEFREE An exome sequencing study identified a p.Phe932Ile KCNT1 mutation as the disease-causing change in a child with severe early infantile epileptic encephalopathy and abnormal myelination (Vanderver et al., 2014). 28366665 2017