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rs794726839

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726839(C;T)
Make rs794726839(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165992290
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726839
ebirs794726839
HLIrs794726839
Exacrs794726839
Varsomers794726839
Maprs794726839
PheGenIrs794726839
hapmaprs794726839
1000 genomesrs794726839
hgdprs794726839
ensemblrs794726839
gopubmedrs794726839
geneviewrs794726839
scholarrs794726839
googlers794726839
pharmgkbrs794726839
gwascentralrs794726839
openSNPrs794726839
23andMers794726839
23andMe allrs794726839
SNP Nexus

SNPshotrs794726839
SNPdbers794726839
MSV3drs794726839
GWAS Ctlgrs794726839
Max Magnitude0
ClinVar
Risk rs794726839(T;T)
Alt rs794726839(T;T)
Reference rs794726839(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.166848800G>A
CLNSRC Peking University
CLNACC RCV000180967.1,