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rs794726723

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs794726723(-;-)
Make rs794726723(-;CT)
Make rs794726723(CT;CT)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166009749
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726723
ebirs794726723
HLIrs794726723
Exacrs794726723
Varsomers794726723
Maprs794726723
PheGenIrs794726723
hapmaprs794726723
1000 genomesrs794726723
hgdprs794726723
ensemblrs794726723
gopubmedrs794726723
geneviewrs794726723
scholarrs794726723
googlers794726723
pharmgkbrs794726723
gwascentralrs794726723
openSNPrs794726723
23andMers794726723
23andMe allrs794726723
SNP Nexus

SNPshotrs794726723
SNPdbers794726723
MSV3drs794726723
GWAS Ctlgrs794726723
Max Magnitude0
ClinVar
Risk rs794726723(CT;CT)
Alt rs794726723(CT;CT)
Reference rs794726723(;)
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.166866260_166866261dupAG
CLNSRC Peking University
CLNACC RCV000180830.1,