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rs794726720

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726720(A;A)
Make rs794726720(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166013834
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726720
ebirs794726720
HLIrs794726720
Exacrs794726720
Varsomers794726720
Maprs794726720
PheGenIrs794726720
hapmaprs794726720
1000 genomesrs794726720
hgdprs794726720
ensemblrs794726720
gopubmedrs794726720
geneviewrs794726720
scholarrs794726720
googlers794726720
pharmgkbrs794726720
gwascentralrs794726720
openSNPrs794726720
23andMers794726720
23andMe allrs794726720
SNP Nexus

SNPshotrs794726720
SNPdbers794726720
MSV3drs794726720
GWAS Ctlgrs794726720
Max Magnitude0
ClinVar
Risk rs794726720(A;A)
Alt rs794726720(A;A)
Reference rs794726720(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.166870344C>T
CLNSRC Peking University
CLNACC RCV000180826.1,