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rs794726708

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726708(G;G)
Make rs794726708(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166037843
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726708
ebirs794726708
HLIrs794726708
Exacrs794726708
Varsomers794726708
Maprs794726708
PheGenIrs794726708
hapmaprs794726708
1000 genomesrs794726708
hgdprs794726708
ensemblrs794726708
gopubmedrs794726708
geneviewrs794726708
scholarrs794726708
googlers794726708
pharmgkbrs794726708
gwascentralrs794726708
openSNPrs794726708
23andMers794726708
23andMe allrs794726708
SNP Nexus

SNPshotrs794726708
SNPdbers794726708
MSV3drs794726708
GWAS Ctlgrs794726708
Max Magnitude0
ClinVar
Risk rs794726708(G;G)
Alt rs794726708(G;G)
Reference rs794726708(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.166894353A>C
CLNSRC Peking University
CLNACC RCV000180811.1,