Variant: rs1057516078 

    present in Gene: KCNQ2;KCNQ2-AS1
    present in Chromosome: 20
    Position on Chromosome: 63445292
    Alleles of this Variant: A/C

rs1057516078 in KCNQ2;KCNQ2-AS1 gene and SEIZURES, BENIGN FAMILIAL NEONATAL, 1 PMID 23360469 2013 Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.