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rs794726850

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs794726850(-;-)
Make rs794726850(-;TG)
Make rs794726850(TG;TG)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165994167
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726850
ebirs794726850
HLIrs794726850
Exacrs794726850
Varsomers794726850
Maprs794726850
PheGenIrs794726850
hapmaprs794726850
1000 genomesrs794726850
hgdprs794726850
ensemblrs794726850
gopubmedrs794726850
geneviewrs794726850
scholarrs794726850
googlers794726850
pharmgkbrs794726850
gwascentralrs794726850
openSNPrs794726850
23andMers794726850
23andMe allrs794726850
SNP Nexus

SNPshotrs794726850
SNPdbers794726850
MSV3drs794726850
GWAS Ctlgrs794726850
Max Magnitude0
ClinVar
Risk rs794726850(TG;TG)
Alt rs794726850(TG;TG)
Reference rs794726850(;)
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.166850678_166850679dupCA
CLNSRC Peking University
CLNACC RCV000180981.1,