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rs794726849

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726849(A;G)
Make rs794726849(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166056451
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726849
ebirs794726849
HLIrs794726849
Exacrs794726849
Varsomers794726849
Maprs794726849
PheGenIrs794726849
hapmaprs794726849
1000 genomesrs794726849
hgdprs794726849
ensemblrs794726849
gopubmedrs794726849
geneviewrs794726849
scholarrs794726849
googlers794726849
pharmgkbrs794726849
gwascentralrs794726849
openSNPrs794726849
23andMers794726849
23andMe allrs794726849
SNP Nexus

SNPshotrs794726849
SNPdbers794726849
MSV3drs794726849
GWAS Ctlgrs794726849
Max Magnitude0
ClinVar
Risk rs794726849(G;G)
Alt rs794726849(G;G)
Reference rs794726849(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.166912961T>C
CLNSRC Peking University
CLNACC RCV000180980.1,