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rs794726767

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs794726767(-;-)
Make rs794726767(-;TG)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166047741
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726767
ebirs794726767
HLIrs794726767
Exacrs794726767
Varsomers794726767
Maprs794726767
PheGenIrs794726767
hapmaprs794726767
1000 genomesrs794726767
hgdprs794726767
ensemblrs794726767
gopubmedrs794726767
geneviewrs794726767
scholarrs794726767
googlers794726767
pharmgkbrs794726767
gwascentralrs794726767
openSNPrs794726767
23andMers794726767
23andMe allrs794726767
SNP Nexus

SNPshotrs794726767
SNPdbers794726767
MSV3drs794726767
GWAS Ctlgrs794726767
Max Magnitude0
ClinVar
Risk rs794726767(;)
Alt rs794726767(;)
Reference rs794726767(TG;TG)
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.166904251_166904252delCA
CLNSRC Peking University
CLNACC RCV000180883.1,