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rs794726799

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726799(C;T)
Make rs794726799(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166047668
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726799
ebirs794726799
HLIrs794726799
Exacrs794726799
Varsomers794726799
Maprs794726799
PheGenIrs794726799
hapmaprs794726799
1000 genomesrs794726799
hgdprs794726799
ensemblrs794726799
gopubmedrs794726799
geneviewrs794726799
scholarrs794726799
googlers794726799
pharmgkbrs794726799
gwascentralrs794726799
openSNPrs794726799
23andMers794726799
23andMe allrs794726799
SNP Nexus

SNPshotrs794726799
SNPdbers794726799
MSV3drs794726799
GWAS Ctlgrs794726799
Max Magnitude0
ClinVar
Risk rs794726799(T;T)
Alt rs794726799(T;T)
Reference rs794726799(C;C)
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.166904178G>A
CLNSRC Peking University
CLNACC RCV000180917.1,