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rs794726846

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs794726846(-;-)
Make rs794726846(-;TG)
Make rs794726846(TG;TG)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166051751
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726846
ebirs794726846
HLIrs794726846
Exacrs794726846
Varsomers794726846
Maprs794726846
PheGenIrs794726846
hapmaprs794726846
1000 genomesrs794726846
hgdprs794726846
ensemblrs794726846
gopubmedrs794726846
geneviewrs794726846
scholarrs794726846
googlers794726846
pharmgkbrs794726846
gwascentralrs794726846
openSNPrs794726846
23andMers794726846
23andMe allrs794726846
SNP Nexus

SNPshotrs794726846
SNPdbers794726846
MSV3drs794726846
GWAS Ctlgrs794726846
Max Magnitude0
ClinVar
Risk rs794726846(TG;TG)
Alt rs794726846(TG;TG)
Reference rs794726846(;)
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.166908262_166908263dupCA
CLNSRC Peking University
CLNACC RCV000180976.1,