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: rs397515405
rs397515405
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		T 0.800 CausalMutation CLINVAR Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. 23086396 2012
dbSNP: rs397515405
rs397515405
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		0.800 GeneticVariation UNIPROT Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. 23086396 2012
dbSNP: rs397515406
rs397515406
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		0.800 GeneticVariation UNIPROT Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. 23086396 2012
dbSNP: rs397515406
rs397515406
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		C 0.800 CausalMutation CLINVAR Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. 23086396 2012
dbSNP: rs397515407
rs397515407
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		0.800 GeneticVariation UNIPROT Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. 23086396 2012
dbSNP: rs397515407
rs397515407
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.800 CausalMutation CLINVAR Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. 23086396 2012
dbSNP: rs397515406
rs397515406
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		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: rs397515407
rs397515407
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 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: rs797044544
rs797044544
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 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: rs370521183
rs370521183
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		0.800 GeneticVariation UNIPROT De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 23086397 2012
dbSNP: rs397515402
rs397515402
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		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
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		0.800 GeneticVariation UNIPROT De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 23086397 2012
dbSNP: rs397515403
rs397515403
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		0.800 GeneticVariation UNIPROT De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 23086397 2012
dbSNP: rs397515403
rs397515403
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		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
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 CausalMutation CLINVAR De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 23086397 2012