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rs794726744

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726744(A;A)
Make rs794726744(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166013743
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726744
ebirs794726744
HLIrs794726744
Exacrs794726744
Varsomers794726744
Maprs794726744
PheGenIrs794726744
hapmaprs794726744
1000 genomesrs794726744
hgdprs794726744
ensemblrs794726744
gopubmedrs794726744
geneviewrs794726744
scholarrs794726744
googlers794726744
pharmgkbrs794726744
gwascentralrs794726744
openSNPrs794726744
23andMers794726744
23andMe allrs794726744
SNP Nexus

SNPshotrs794726744
SNPdbers794726744
MSV3drs794726744
GWAS Ctlgrs794726744
Max Magnitude0
ClinVar
Risk rs794726744(A;A)
Alt rs794726744(A;A)
Reference rs794726744(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.166870253C>T
CLNSRC Peking University
CLNACC RCV000180854.1,