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rs794726700

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726700(G;T)
Make rs794726700(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166012108
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726700
ebirs794726700
HLIrs794726700
Exacrs794726700
Varsomers794726700
Maprs794726700
PheGenIrs794726700
hapmaprs794726700
1000 genomesrs794726700
hgdprs794726700
ensemblrs794726700
gopubmedrs794726700
geneviewrs794726700
scholarrs794726700
googlers794726700
pharmgkbrs794726700
gwascentralrs794726700
openSNPrs794726700
23andMers794726700
23andMe allrs794726700
SNP Nexus

SNPshotrs794726700
SNPdbers794726700
MSV3drs794726700
GWAS Ctlgrs794726700
Max Magnitude0
ClinVar
Risk rs794726700(T;T)
Alt rs794726700(T;T)
Reference rs794726700(G;G)
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.166868618C>A
CLNSRC Peking University
CLNACC RCV000180801.1,