Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796052653
rs796052653
KCNQ2 ; LOC105372724
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 25959266

2015
dbSNP: rs796052653
rs796052653
KCNQ2 ; LOC105372724
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. 24107868

2013
dbSNP: rs796052653
rs796052653
KCNQ2 ; LOC105372724
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. 23621294

2013