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rs794726742

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726742(G;T)
Make rs794726742(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166041433
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726742
ebirs794726742
HLIrs794726742
Exacrs794726742
Varsomers794726742
Maprs794726742
PheGenIrs794726742
hapmaprs794726742
1000 genomesrs794726742
hgdprs794726742
ensemblrs794726742
gopubmedrs794726742
geneviewrs794726742
scholarrs794726742
googlers794726742
pharmgkbrs794726742
gwascentralrs794726742
openSNPrs794726742
23andMers794726742
23andMe allrs794726742
SNP Nexus

SNPshotrs794726742
SNPdbers794726742
MSV3drs794726742
GWAS Ctlgrs794726742
Max Magnitude0
ClinVar
Risk rs794726742(A,T;A,T)
Alt rs794726742(A,T;A,T)
Reference rs794726742(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.166897943C>A; NC_000002.11:g.166897943C>T
CLNSRC Peking University
CLNACC RCV000180852.1, RCV000180923.1,