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rs794726713

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726713(A;G)
Make rs794726713(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166047721
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726713
ebirs794726713
HLIrs794726713
Exacrs794726713
Varsomers794726713
Maprs794726713
PheGenIrs794726713
hapmaprs794726713
1000 genomesrs794726713
hgdprs794726713
ensemblrs794726713
gopubmedrs794726713
geneviewrs794726713
scholarrs794726713
googlers794726713
pharmgkbrs794726713
gwascentralrs794726713
openSNPrs794726713
23andMers794726713
23andMe allrs794726713
SNP Nexus

SNPshotrs794726713
SNPdbers794726713
MSV3drs794726713
GWAS Ctlgrs794726713
Max Magnitude0
ClinVar
Risk rs794726713(G,T;G,T)
Alt rs794726713(G,T;G,T)
Reference rs794726713(A;A)
Significance Pathogenic
Disease not provided Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN not provided Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166904231T>A; NC_000002.11:g.166904231T>C
CLNSRC Peking University
CLNACC RCV000188858.1, RCV000180817.1,