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rs794726740

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726740(A;C)
Make rs794726740(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165992261
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726740
ebirs794726740
HLIrs794726740
Exacrs794726740
Varsomers794726740
Maprs794726740
PheGenIrs794726740
hapmaprs794726740
1000 genomesrs794726740
hgdprs794726740
ensemblrs794726740
gopubmedrs794726740
geneviewrs794726740
scholarrs794726740
googlers794726740
pharmgkbrs794726740
gwascentralrs794726740
openSNPrs794726740
23andMers794726740
23andMe allrs794726740
SNP Nexus

SNPshotrs794726740
SNPdbers794726740
MSV3drs794726740
GWAS Ctlgrs794726740
Max Magnitude0
ClinVar
Risk rs794726740(C;C)
Alt rs794726740(C;C)
Reference rs794726740(A;A)
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.166848771T>G
CLNSRC Peking University
CLNACC RCV000180849.1,