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rs794726766

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726766(C;T)
Make rs794726766(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166041343
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726766
ebirs794726766
HLIrs794726766
Exacrs794726766
Varsomers794726766
Maprs794726766
PheGenIrs794726766
hapmaprs794726766
1000 genomesrs794726766
hgdprs794726766
ensemblrs794726766
gopubmedrs794726766
geneviewrs794726766
scholarrs794726766
googlers794726766
pharmgkbrs794726766
gwascentralrs794726766
openSNPrs794726766
23andMers794726766
23andMe allrs794726766
SNP Nexus

SNPshotrs794726766
SNPdbers794726766
MSV3drs794726766
GWAS Ctlgrs794726766
Max Magnitude0
ClinVar
Risk rs794726766(T;T)
Alt rs794726766(T;T)
Reference rs794726766(C;C)
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.166897853G>A
CLNSRC Peking University
CLNACC RCV000180882.1,