Have questions? Visit https://www.reddit.com/r/SNPedia

rs794726808

From SNPedia

ClinVar
Risk rs794726808(;)
Alt rs794726808(;)
Reference rs794726808(GACTGTATGG;GACTGTATGG)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166894354_166894363delTACAGTCCCA
CLNSRC Peking University
CLNACC RCV000180929.1,