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rs794726776

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs794726776(-;-)
Make rs794726776(-;GC)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166046963
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726776
ebirs794726776
HLIrs794726776
Exacrs794726776
Varsomers794726776
Maprs794726776
PheGenIrs794726776
hapmaprs794726776
1000 genomesrs794726776
hgdprs794726776
ensemblrs794726776
gopubmedrs794726776
geneviewrs794726776
scholarrs794726776
googlers794726776
pharmgkbrs794726776
gwascentralrs794726776
openSNPrs794726776
23andMers794726776
23andMe allrs794726776
SNP Nexus

SNPshotrs794726776
SNPdbers794726776
MSV3drs794726776
GWAS Ctlgrs794726776
Max Magnitude0
ClinVar
Risk rs794726776(;)
Alt rs794726776(;)
Reference rs794726776(GC;GC)
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.166903473_166903474delGC
CLNSRC Peking University
CLNACC RCV000180892.1,