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rs794726821

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726821(C;C)
Make rs794726821(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166002701
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726821
ebirs794726821
HLIrs794726821
Exacrs794726821
Varsomers794726821
Maprs794726821
PheGenIrs794726821
hapmaprs794726821
1000 genomesrs794726821
hgdprs794726821
ensemblrs794726821
gopubmedrs794726821
geneviewrs794726821
scholarrs794726821
googlers794726821
pharmgkbrs794726821
gwascentralrs794726821
openSNPrs794726821
23andMers794726821
23andMe allrs794726821
SNP Nexus

SNPshotrs794726821
SNPdbers794726821
MSV3drs794726821
GWAS Ctlgrs794726821
Max Magnitude0
ClinVar
Risk rs794726821(C;C)
Alt rs794726821(C;C)
Reference rs794726821(T;T)
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.166859211A>G
CLNSRC Peking University
CLNACC RCV000180946.1,