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rs794726745

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726745(A;A)
Make rs794726745(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166002568
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726745
dbSNP (old)rs794726745
ClinGenrs794726745
ebirs794726745
HLIrs794726745
Exacrs794726745
Gnomadrs794726745
Varsomers794726745
Maprs794726745
PheGenIrs794726745
Biobankrs794726745
1000 genomesrs794726745
hgdprs794726745
ensemblrs794726745
gopubmedrs794726745
geneviewrs794726745
scholarrs794726745
googlers794726745
pharmgkbrs794726745
gwascentralrs794726745
openSNPrs794726745
23andMers794726745
23andMe allrs794726745
SNP Nexus

SNPshotrs794726745
SNPdbers794726745
MSV3drs794726745
GWAS Ctlgrs794726745
Max Magnitude0
ClinVar
Risk rs794726745(A;A)
Alt rs794726745(A;A)
Reference Rs794726745(C;C)
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.166859078G>T
CLNSRC Peking University
CLNACC RCV000180855.1,