Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315391
rs74315391
KCNQ2
A 0.700 CausalMutation CLINVAR Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A. 24375629

2014
dbSNP: rs74315391
rs74315391
KCNQ2
A 0.700 CausalMutation CLINVAR Gating currents from Kv7 channels carrying neuronal hyperexcitability mutations in the voltage-sensing domain. 22455920

2012
dbSNP: rs74315391
rs74315391
KCNQ2
A 0.700 CausalMutation CLINVAR Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation. 22169383

2012
dbSNP: rs74315391
rs74315391
KCNQ2
A 0.700 CausalMutation CLINVAR Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. 11572947

2001