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rs794726836

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726836(A;A)
Make rs794726836(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166015606
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726836
ebirs794726836
HLIrs794726836
Exacrs794726836
Varsomers794726836
Maprs794726836
PheGenIrs794726836
hapmaprs794726836
1000 genomesrs794726836
hgdprs794726836
ensemblrs794726836
gopubmedrs794726836
geneviewrs794726836
scholarrs794726836
googlers794726836
pharmgkbrs794726836
gwascentralrs794726836
openSNPrs794726836
23andMers794726836
23andMe allrs794726836
SNP Nexus

SNPshotrs794726836
SNPdbers794726836
MSV3drs794726836
GWAS Ctlgrs794726836
Max Magnitude0
ClinVar
Risk rs794726836(A;A)
Alt rs794726836(A;A)
Reference rs794726836(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.166872116C>T
CLNSRC Peking University
CLNACC RCV000180964.1,