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rs794726696

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726696(A;A)
Make rs794726696(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165998163
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726696
ebirs794726696
HLIrs794726696
Exacrs794726696
Varsomers794726696
Maprs794726696
PheGenIrs794726696
hapmaprs794726696
1000 genomesrs794726696
hgdprs794726696
ensemblrs794726696
gopubmedrs794726696
geneviewrs794726696
scholarrs794726696
googlers794726696
pharmgkbrs794726696
gwascentralrs794726696
openSNPrs794726696
23andMers794726696
23andMe allrs794726696
SNP Nexus

SNPshotrs794726696
SNPdbers794726696
MSV3drs794726696
GWAS Ctlgrs794726696
Max Magnitude0
ClinVar
Risk rs794726696(A;A)
Alt rs794726696(A;A)
Reference rs794726696(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.166854673G>T
CLNSRC Peking University
CLNACC RCV000180797.1,