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rs794726808

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GACTGTATGG;GACTGTATGG) 0 common in clinvar
Make rs794726808(-;-)
Make rs794726808(-;TGGGACTGTA)
Make rs794726808(TGGGACTGTA;TGGGACTGTA)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166037844
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726808
dbSNP (old)rs794726808
ClinGenrs794726808
ebirs794726808
HLIrs794726808
Exacrs794726808
Gnomadrs794726808
Varsomers794726808
Maprs794726808
PheGenIrs794726808
Biobankrs794726808
1000 genomesrs794726808
hgdprs794726808
ensemblrs794726808
gopubmedrs794726808
geneviewrs794726808
scholarrs794726808
googlers794726808
pharmgkbrs794726808
gwascentralrs794726808
openSNPrs794726808
23andMers794726808
23andMe allrs794726808
SNP Nexus

SNPshotrs794726808
SNPdbers794726808
MSV3drs794726808
GWAS Ctlgrs794726808
Max Magnitude0
ClinVar
Risk rs794726808(-;-)
Alt rs794726808(-;-)
Reference Rs794726808(GACTGTATGG;GACTGTATGG)
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.166894354_166894363delTACAGTCCCA
CLNSRC Peking University
CLNACC RCV000180929.1,