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rs794726721

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726721(A;A)
Make rs794726721(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166037994
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726721
ebirs794726721
HLIrs794726721
Exacrs794726721
Varsomers794726721
Maprs794726721
PheGenIrs794726721
hapmaprs794726721
1000 genomesrs794726721
hgdprs794726721
ensemblrs794726721
gopubmedrs794726721
geneviewrs794726721
scholarrs794726721
googlers794726721
pharmgkbrs794726721
gwascentralrs794726721
openSNPrs794726721
23andMers794726721
23andMe allrs794726721
SNP Nexus

SNPshotrs794726721
SNPdbers794726721
MSV3drs794726721
GWAS Ctlgrs794726721
Max Magnitude0
ClinVar
Risk rs794726721(A;A)
Alt rs794726721(A;A)
Reference rs794726721(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.166894504G>T
CLNSRC Peking University
CLNACC RCV000180827.1,