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rs794726842

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726842(A;A)
Make rs794726842(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166037786
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726842
ebirs794726842
HLIrs794726842
Exacrs794726842
Varsomers794726842
Maprs794726842
PheGenIrs794726842
hapmaprs794726842
1000 genomesrs794726842
hgdprs794726842
ensemblrs794726842
gopubmedrs794726842
geneviewrs794726842
scholarrs794726842
googlers794726842
pharmgkbrs794726842
gwascentralrs794726842
openSNPrs794726842
23andMers794726842
23andMe allrs794726842
SNP Nexus

SNPshotrs794726842
SNPdbers794726842
MSV3drs794726842
GWAS Ctlgrs794726842
Max Magnitude0
ClinVar
Risk rs794726842(A;A)
Alt rs794726842(A;A)
Reference rs794726842(G;G)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166894296C>T
CLNSRC Peking University
CLNACC RCV000180972.1,