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rs794726845

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726845(C;T)
Make rs794726845(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165991613
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726845
ebirs794726845
HLIrs794726845
Exacrs794726845
Varsomers794726845
Maprs794726845
PheGenIrs794726845
hapmaprs794726845
1000 genomesrs794726845
hgdprs794726845
ensemblrs794726845
gopubmedrs794726845
geneviewrs794726845
scholarrs794726845
googlers794726845
pharmgkbrs794726845
gwascentralrs794726845
openSNPrs794726845
23andMers794726845
23andMe allrs794726845
SNP Nexus

SNPshotrs794726845
SNPdbers794726845
MSV3drs794726845
GWAS Ctlgrs794726845
Max Magnitude0
ClinVar
Risk rs794726845(T;T)
Alt rs794726845(T;T)
Reference rs794726845(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.166848123G>A
CLNSRC Peking University
CLNACC RCV000180975.1,