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rs794726753

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726753(A;A)
Make rs794726753(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166047651
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726753
ebirs794726753
HLIrs794726753
Exacrs794726753
Varsomers794726753
Maprs794726753
PheGenIrs794726753
hapmaprs794726753
1000 genomesrs794726753
hgdprs794726753
ensemblrs794726753
gopubmedrs794726753
geneviewrs794726753
scholarrs794726753
googlers794726753
pharmgkbrs794726753
gwascentralrs794726753
openSNPrs794726753
23andMers794726753
23andMe allrs794726753
SNP Nexus

SNPshotrs794726753
SNPdbers794726753
MSV3drs794726753
GWAS Ctlgrs794726753
Max Magnitude0
ClinVar
Risk rs794726753(A;A)
Alt rs794726753(A;A)
Reference rs794726753(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.166904161G>T
CLNSRC Peking University
CLNACC RCV000180865.1,