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

rs794726726

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAAC;AAAC) 0 common in clinvar
Make rs794726726(-;-)
Make rs794726726(-;AAAC)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165991736
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726726
ebirs794726726
HLIrs794726726
Exacrs794726726
Varsomers794726726
Maprs794726726
PheGenIrs794726726
hapmaprs794726726
1000 genomesrs794726726
hgdprs794726726
ensemblrs794726726
gopubmedrs794726726
geneviewrs794726726
scholarrs794726726
googlers794726726
pharmgkbrs794726726
gwascentralrs794726726
openSNPrs794726726
23andMers794726726
23andMe allrs794726726
SNP Nexus

SNPshotrs794726726
SNPdbers794726726
MSV3drs794726726
GWAS Ctlgrs794726726
Max Magnitude0
ClinVar
Risk rs794726726(;)
Alt rs794726726(;)
Reference rs794726726(AAAC;AAAC)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy not provided
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy not provided
Reversed 1
HGVS NC_000002.11:g.166848246_166848249delGTTT
CLNSRC Peking University
CLNACC RCV000180834.1, RCV000189067.1,