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rs794726727

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726727(C;T)
Make rs794726727(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166012258
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726727
ebirs794726727
HLIrs794726727
Exacrs794726727
Varsomers794726727
Maprs794726727
PheGenIrs794726727
hapmaprs794726727
1000 genomesrs794726727
hgdprs794726727
ensemblrs794726727
gopubmedrs794726727
geneviewrs794726727
scholarrs794726727
googlers794726727
pharmgkbrs794726727
gwascentralrs794726727
openSNPrs794726727
23andMers794726727
23andMe allrs794726727
SNP Nexus

SNPshotrs794726727
SNPdbers794726727
MSV3drs794726727
GWAS Ctlgrs794726727
Max Magnitude0
ClinVar
Risk rs794726727(T;T)
Alt rs794726727(T;T)
Reference rs794726727(C;C)
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.166868768G>A
CLNSRC Peking University
CLNACC RCV000180836.1,