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rs794726854

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726854(C;C)
Make rs794726854(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166013788
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726854
ebirs794726854
HLIrs794726854
Exacrs794726854
Varsomers794726854
Maprs794726854
PheGenIrs794726854
hapmaprs794726854
1000 genomesrs794726854
hgdprs794726854
ensemblrs794726854
gopubmedrs794726854
geneviewrs794726854
scholarrs794726854
googlers794726854
pharmgkbrs794726854
gwascentralrs794726854
openSNPrs794726854
23andMers794726854
23andMe allrs794726854
SNP Nexus

SNPshotrs794726854
SNPdbers794726854
MSV3drs794726854
GWAS Ctlgrs794726854
Max Magnitude0
ClinVar
Risk rs794726854(C;C)
Alt rs794726854(C;C)
Reference rs794726854(G;G)
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.166870298C>G
CLNSRC Peking University
CLNACC RCV000180987.1,