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rs794726841

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726841(C;T)
Make rs794726841(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166012170
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726841
ebirs794726841
HLIrs794726841
Exacrs794726841
Varsomers794726841
Maprs794726841
PheGenIrs794726841
hapmaprs794726841
1000 genomesrs794726841
hgdprs794726841
ensemblrs794726841
gopubmedrs794726841
geneviewrs794726841
scholarrs794726841
googlers794726841
pharmgkbrs794726841
gwascentralrs794726841
openSNPrs794726841
23andMers794726841
23andMe allrs794726841
SNP Nexus

SNPshotrs794726841
SNPdbers794726841
MSV3drs794726841
GWAS Ctlgrs794726841
Max Magnitude0
ClinVar
Risk rs794726841(T;T)
Alt rs794726841(T;T)
Reference rs794726841(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.166868680G>A
CLNSRC Peking University
CLNACC RCV000180969.1,