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rs794726847

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726847(A;C)
Make rs794726847(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166051857
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726847
ebirs794726847
HLIrs794726847
Exacrs794726847
Varsomers794726847
Maprs794726847
PheGenIrs794726847
hapmaprs794726847
1000 genomesrs794726847
hgdprs794726847
ensemblrs794726847
gopubmedrs794726847
geneviewrs794726847
scholarrs794726847
googlers794726847
pharmgkbrs794726847
gwascentralrs794726847
openSNPrs794726847
23andMers794726847
23andMe allrs794726847
SNP Nexus

SNPshotrs794726847
SNPdbers794726847
MSV3drs794726847
GWAS Ctlgrs794726847
Max Magnitude0
ClinVar
Risk rs794726847(C;C)
Alt rs794726847(C;C)
Reference rs794726847(A;A)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166908367T>G
CLNSRC Peking University
CLNACC RCV000180977.1,