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rs794726852

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726852(A;C)
Make rs794726852(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166012167
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726852
ebirs794726852
HLIrs794726852
Exacrs794726852
Varsomers794726852
Maprs794726852
PheGenIrs794726852
hapmaprs794726852
1000 genomesrs794726852
hgdprs794726852
ensemblrs794726852
gopubmedrs794726852
geneviewrs794726852
scholarrs794726852
googlers794726852
pharmgkbrs794726852
gwascentralrs794726852
openSNPrs794726852
23andMers794726852
23andMe allrs794726852
SNP Nexus

SNPshotrs794726852
SNPdbers794726852
MSV3drs794726852
GWAS Ctlgrs794726852
Max Magnitude0
ClinVar
Risk rs794726852(C;C)
Alt rs794726852(C;C)
Reference rs794726852(A;A)
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.166868677T>G
CLNSRC Peking University
CLNACC RCV000180984.1,