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rs794726729

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726729(-;-)
Make rs794726729(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166015680
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726729
ebirs794726729
HLIrs794726729
Exacrs794726729
Varsomers794726729
Maprs794726729
PheGenIrs794726729
hapmaprs794726729
1000 genomesrs794726729
hgdprs794726729
ensemblrs794726729
gopubmedrs794726729
geneviewrs794726729
scholarrs794726729
googlers794726729
pharmgkbrs794726729
gwascentralrs794726729
openSNPrs794726729
23andMers794726729
23andMe allrs794726729
SNP Nexus

SNPshotrs794726729
SNPdbers794726729
MSV3drs794726729
GWAS Ctlgrs794726729
Max Magnitude0
ClinVar
Risk rs794726729(;)
Alt rs794726729(;)
Reference rs794726729(C;C)
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.166872190delG
CLNSRC Peking University
CLNACC RCV000180838.1,