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rs794726853

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726853(A;A)
Make rs794726853(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166012130
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726853
ebirs794726853
HLIrs794726853
Exacrs794726853
Varsomers794726853
Maprs794726853
PheGenIrs794726853
hapmaprs794726853
1000 genomesrs794726853
hgdprs794726853
ensemblrs794726853
gopubmedrs794726853
geneviewrs794726853
scholarrs794726853
googlers794726853
pharmgkbrs794726853
gwascentralrs794726853
openSNPrs794726853
23andMers794726853
23andMe allrs794726853
SNP Nexus

SNPshotrs794726853
SNPdbers794726853
MSV3drs794726853
GWAS Ctlgrs794726853
Max Magnitude0
ClinVar
Risk rs794726853(A;A)
Alt rs794726853(A;A)
Reference rs794726853(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.166868640C>T
CLNSRC Peking University
CLNACC RCV000180985.1,