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rs794726765

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726765(G;T)
Make rs794726765(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166047626
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726765
ebirs794726765
HLIrs794726765
Exacrs794726765
Varsomers794726765
Maprs794726765
PheGenIrs794726765
hapmaprs794726765
1000 genomesrs794726765
hgdprs794726765
ensemblrs794726765
gopubmedrs794726765
geneviewrs794726765
scholarrs794726765
googlers794726765
pharmgkbrs794726765
gwascentralrs794726765
openSNPrs794726765
23andMers794726765
23andMe allrs794726765
SNP Nexus

SNPshotrs794726765
SNPdbers794726765
MSV3drs794726765
GWAS Ctlgrs794726765
Max Magnitude0
ClinVar
Risk rs794726765(T;T)
Alt rs794726765(T;T)
Reference rs794726765(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.166904136C>A
CLNSRC Peking University
CLNACC RCV000180881.1,