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rs794726709

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTTCTAAAATG;CTTCTAAAATG) 0 common in clinvar
Make rs794726709(-;-)
Make rs794726709(-;CTTCTAAAATG)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166012176
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726709
ebirs794726709
HLIrs794726709
Exacrs794726709
Varsomers794726709
Maprs794726709
PheGenIrs794726709
hapmaprs794726709
1000 genomesrs794726709
hgdprs794726709
ensemblrs794726709
gopubmedrs794726709
geneviewrs794726709
scholarrs794726709
googlers794726709
pharmgkbrs794726709
gwascentralrs794726709
openSNPrs794726709
23andMers794726709
23andMe allrs794726709
SNP Nexus

SNPshotrs794726709
SNPdbers794726709
MSV3drs794726709
GWAS Ctlgrs794726709
Max Magnitude0
ClinVar
Risk rs794726709(;)
Alt rs794726709(;)
Reference rs794726709(CTTCTAAAATG;CTTCTAAAATG)
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.166868686_166868696delCATTTTAGAAG
CLNSRC Peking University
CLNACC RCV000180813.1,