Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777219
rs587777219
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 25959266

2015
dbSNP: rs587777219
rs587777219
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. 22926866

2012