Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1564367605
rs1564367605
KCNT1
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy. 28488083

2017
dbSNP: rs1564367605
rs1564367605
KCNT1
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. 26740507

2016
dbSNP: rs1564367605
rs1564367605
KCNT1
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR De novo KCNT1 mutations in early-onset epileptic encephalopathy. 26140313

2015