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rs794726701

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs794726701(-;-)
Make rs794726701(-;AAGTA)
Make rs794726701(AAGTA;AAGTA)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165992391
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726701
ebirs794726701
HLIrs794726701
Exacrs794726701
Varsomers794726701
Maprs794726701
PheGenIrs794726701
hapmaprs794726701
1000 genomesrs794726701
hgdprs794726701
ensemblrs794726701
gopubmedrs794726701
geneviewrs794726701
scholarrs794726701
googlers794726701
pharmgkbrs794726701
gwascentralrs794726701
openSNPrs794726701
23andMers794726701
23andMe allrs794726701
SNP Nexus

SNPshotrs794726701
SNPdbers794726701
MSV3drs794726701
GWAS Ctlgrs794726701
Max Magnitude0
ClinVar
Risk rs794726701(AAGTA;AAGTA)
Alt rs794726701(AAGTA;AAGTA)
Reference rs794726701(;)
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.166848902_166848906dupTACTT
CLNSRC Peking University
CLNACC RCV000180803.1,