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rs794726819

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs794726819(-;-)
Make rs794726819(-;ATGT)
Make rs794726819(ATGT;ATGT)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165992278
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726819
ebirs794726819
HLIrs794726819
Exacrs794726819
Varsomers794726819
Maprs794726819
PheGenIrs794726819
hapmaprs794726819
1000 genomesrs794726819
hgdprs794726819
ensemblrs794726819
gopubmedrs794726819
geneviewrs794726819
scholarrs794726819
googlers794726819
pharmgkbrs794726819
gwascentralrs794726819
openSNPrs794726819
23andMers794726819
23andMe allrs794726819
SNP Nexus

SNPshotrs794726819
SNPdbers794726819
MSV3drs794726819
GWAS Ctlgrs794726819
Max Magnitude0
ClinVar
Risk rs794726819(ATGT;ATGT)
Alt rs794726819(ATGT;ATGT)
Reference rs794726819(;)
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.166848789_166848792dupACAT
CLNSRC Peking University
CLNACC RCV000180944.1,