Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118192226
rs118192226
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755

2015
dbSNP: rs118192226
rs118192226
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 23360469

2013
dbSNP: rs118192226
rs118192226
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions. 20119593

2010
dbSNP: rs118192226
rs118192226
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction. 14985406

2004
dbSNP: rs118192226
rs118192226
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. 14534157

2003
dbSNP: rs118192226
rs118192226
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR Familial neonatal and infantile seizures: an autosomal-dominant disorder. 6476007

1984