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rs794726768

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726768(A;G)
Make rs794726768(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166047749
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726768
ebirs794726768
HLIrs794726768
Exacrs794726768
Varsomers794726768
Maprs794726768
PheGenIrs794726768
hapmaprs794726768
1000 genomesrs794726768
hgdprs794726768
ensemblrs794726768
gopubmedrs794726768
geneviewrs794726768
scholarrs794726768
googlers794726768
pharmgkbrs794726768
gwascentralrs794726768
openSNPrs794726768
23andMers794726768
23andMe allrs794726768
SNP Nexus

SNPshotrs794726768
SNPdbers794726768
MSV3drs794726768
GWAS Ctlgrs794726768
Max Magnitude0
ClinVar
Risk rs794726768(G;G)
Alt rs794726768(G;G)
Reference rs794726768(A;A)
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.166904259T>C
CLNSRC Peking University
CLNACC RCV000180884.1,