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rs794726706

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs794726706(-;-)
Make rs794726706(-;AT)
Make rs794726706(AT;AT)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166012261
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726706
ebirs794726706
HLIrs794726706
Exacrs794726706
Varsomers794726706
Maprs794726706
PheGenIrs794726706
hapmaprs794726706
1000 genomesrs794726706
hgdprs794726706
ensemblrs794726706
gopubmedrs794726706
geneviewrs794726706
scholarrs794726706
googlers794726706
pharmgkbrs794726706
gwascentralrs794726706
openSNPrs794726706
23andMers794726706
23andMe allrs794726706
SNP Nexus

SNPshotrs794726706
SNPdbers794726706
MSV3drs794726706
GWAS Ctlgrs794726706
Max Magnitude0
ClinVar
Risk rs794726706(AT;AT)
Alt rs794726706(AT;AT)
Reference rs794726706(;)
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.166868771_166868772insAT
CLNSRC Peking University
CLNACC RCV000180809.1,