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rs794726834

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726834(G;T)
Make rs794726834(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166043908
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726834
ebirs794726834
HLIrs794726834
Exacrs794726834
Varsomers794726834
Maprs794726834
PheGenIrs794726834
hapmaprs794726834
1000 genomesrs794726834
hgdprs794726834
ensemblrs794726834
gopubmedrs794726834
geneviewrs794726834
scholarrs794726834
googlers794726834
pharmgkbrs794726834
gwascentralrs794726834
openSNPrs794726834
23andMers794726834
23andMe allrs794726834
SNP Nexus

SNPshotrs794726834
SNPdbers794726834
MSV3drs794726834
GWAS Ctlgrs794726834
Max Magnitude0
ClinVar
Risk rs794726834(T;T)
Alt rs794726834(T;T)
Reference rs794726834(G;G)
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.166900418C>A
CLNSRC Peking University
CLNACC RCV000180962.1,