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

rs794726828

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726828(A;A)
Make rs794726828(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166037793
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726828
ebirs794726828
HLIrs794726828
Exacrs794726828
Varsomers794726828
Maprs794726828
PheGenIrs794726828
hapmaprs794726828
1000 genomesrs794726828
hgdprs794726828
ensemblrs794726828
gopubmedrs794726828
geneviewrs794726828
scholarrs794726828
googlers794726828
pharmgkbrs794726828
gwascentralrs794726828
openSNPrs794726828
23andMers794726828
23andMe allrs794726828
SNP Nexus

SNPshotrs794726828
SNPdbers794726828
MSV3drs794726828
GWAS Ctlgrs794726828
Max Magnitude0
ClinVar
Risk rs794726828(A;A)
Alt rs794726828(A;A)
Reference rs794726828(G;G)
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.166894303C>T
CLNSRC Peking University
CLNACC RCV000180955.1,