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rs794726777

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs794726777(-;-)
Make rs794726777(-;A)
Make rs794726777(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166046964
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726777
ebirs794726777
HLIrs794726777
Exacrs794726777
Varsomers794726777
Maprs794726777
PheGenIrs794726777
hapmaprs794726777
1000 genomesrs794726777
hgdprs794726777
ensemblrs794726777
gopubmedrs794726777
geneviewrs794726777
scholarrs794726777
googlers794726777
pharmgkbrs794726777
gwascentralrs794726777
openSNPrs794726777
23andMers794726777
23andMe allrs794726777
SNP Nexus

SNPshotrs794726777
SNPdbers794726777
MSV3drs794726777
GWAS Ctlgrs794726777
Max Magnitude0
ClinVar
Risk rs794726777(A;A)
Alt rs794726777(A;A)
Reference rs794726777(;)
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.166903474_166903475insT
CLNSRC Peking University
CLNACC RCV000180893.1,