Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1568940442
rs1568940442
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits. 25740509

2015
dbSNP: rs1568940442
rs1568940442
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
dbSNP: rs1568940442
rs1568940442
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 23360469

2013
dbSNP: rs1568940442
rs1568940442
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. 24107868

2013
dbSNP: rs1568940442
rs1568940442
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions. 17475800

2007