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rs794726733

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726733(G;T)
Make rs794726733(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166015718
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726733
ebirs794726733
HLIrs794726733
Exacrs794726733
Varsomers794726733
Maprs794726733
PheGenIrs794726733
hapmaprs794726733
1000 genomesrs794726733
hgdprs794726733
ensemblrs794726733
gopubmedrs794726733
geneviewrs794726733
scholarrs794726733
googlers794726733
pharmgkbrs794726733
gwascentralrs794726733
openSNPrs794726733
23andMers794726733
23andMe allrs794726733
SNP Nexus

SNPshotrs794726733
SNPdbers794726733
MSV3drs794726733
GWAS Ctlgrs794726733
Max Magnitude0
ClinVar
Risk rs794726733(T;T)
Alt rs794726733(T;T)
Reference rs794726733(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.166872228C>A
CLNSRC Peking University
CLNACC RCV000180841.1,