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rs794726779

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726779(C;G)
Make rs794726779(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166002670
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726779
ebirs794726779
HLIrs794726779
Exacrs794726779
Varsomers794726779
Maprs794726779
PheGenIrs794726779
hapmaprs794726779
1000 genomesrs794726779
hgdprs794726779
ensemblrs794726779
gopubmedrs794726779
geneviewrs794726779
scholarrs794726779
googlers794726779
pharmgkbrs794726779
gwascentralrs794726779
openSNPrs794726779
23andMers794726779
23andMe allrs794726779
SNP Nexus

SNPshotrs794726779
SNPdbers794726779
MSV3drs794726779
GWAS Ctlgrs794726779
Max Magnitude0
ClinVar
Risk rs794726779(G;G)
Alt rs794726779(G;G)
Reference rs794726779(C;C)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166859180G>C
CLNSRC Peking University
CLNACC RCV000180895.1,