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rs794726732

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726732(A;A)
Make rs794726732(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166047661
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726732
ebirs794726732
HLIrs794726732
Exacrs794726732
Varsomers794726732
Maprs794726732
PheGenIrs794726732
hapmaprs794726732
1000 genomesrs794726732
hgdprs794726732
ensemblrs794726732
gopubmedrs794726732
geneviewrs794726732
scholarrs794726732
googlers794726732
pharmgkbrs794726732
gwascentralrs794726732
openSNPrs794726732
23andMers794726732
23andMe allrs794726732
SNP Nexus

SNPshotrs794726732
SNPdbers794726732
MSV3drs794726732
GWAS Ctlgrs794726732
Max Magnitude0
ClinVar
Risk rs794726732(A;A)
Alt rs794726732(A;A)
Reference rs794726732(T;T)
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.166904171A>T
CLNSRC Peking University
CLNACC RCV000180840.1,