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rs794726848

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726848(A;A)
Make rs794726848(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166073552
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726848
ebirs794726848
HLIrs794726848
Exacrs794726848
Varsomers794726848
Maprs794726848
PheGenIrs794726848
hapmaprs794726848
1000 genomesrs794726848
hgdprs794726848
ensemblrs794726848
gopubmedrs794726848
geneviewrs794726848
scholarrs794726848
googlers794726848
pharmgkbrs794726848
gwascentralrs794726848
openSNPrs794726848
23andMers794726848
23andMe allrs794726848
SNP Nexus

SNPshotrs794726848
SNPdbers794726848
MSV3drs794726848
GWAS Ctlgrs794726848
Max Magnitude0
ClinVar
Risk rs794726848(A;A)
Alt rs794726848(A;A)
Reference rs794726848(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.166930062C>T
CLNSRC Peking University
CLNACC RCV000180979.1,