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rs794726707

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726707(A;A)
Make rs794726707(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166002668
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726707
ebirs794726707
HLIrs794726707
Exacrs794726707
Varsomers794726707
Maprs794726707
PheGenIrs794726707
hapmaprs794726707
1000 genomesrs794726707
hgdprs794726707
ensemblrs794726707
gopubmedrs794726707
geneviewrs794726707
scholarrs794726707
googlers794726707
pharmgkbrs794726707
gwascentralrs794726707
openSNPrs794726707
23andMers794726707
23andMe allrs794726707
SNP Nexus

SNPshotrs794726707
SNPdbers794726707
MSV3drs794726707
GWAS Ctlgrs794726707
Max Magnitude0
ClinVar
Risk rs794726707(A;A)
Alt rs794726707(A;A)
Reference rs794726707(T;T)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166859178A>T
CLNSRC Peking University
CLNACC RCV000180810.1,