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rs794726749

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726749(G;T)
Make rs794726749(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166045042
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726749
ebirs794726749
HLIrs794726749
Exacrs794726749
Varsomers794726749
Maprs794726749
PheGenIrs794726749
hapmaprs794726749
1000 genomesrs794726749
hgdprs794726749
ensemblrs794726749
gopubmedrs794726749
geneviewrs794726749
scholarrs794726749
googlers794726749
pharmgkbrs794726749
gwascentralrs794726749
openSNPrs794726749
23andMers794726749
23andMe allrs794726749
SNP Nexus

SNPshotrs794726749
SNPdbers794726749
MSV3drs794726749
GWAS Ctlgrs794726749
Max Magnitude0
ClinVar
Risk rs794726749(T;T)
Alt rs794726749(T;T)
Reference rs794726749(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.166901552C>A
CLNSRC Peking University
CLNACC RCV000180860.1,