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rs794726741

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs794726741(-;-)
Make rs794726741(-;GGTC)
Make rs794726741(GGTC;GGTC)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165991922
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726741
ebirs794726741
HLIrs794726741
Exacrs794726741
Varsomers794726741
Maprs794726741
PheGenIrs794726741
hapmaprs794726741
1000 genomesrs794726741
hgdprs794726741
ensemblrs794726741
gopubmedrs794726741
geneviewrs794726741
scholarrs794726741
googlers794726741
pharmgkbrs794726741
gwascentralrs794726741
openSNPrs794726741
23andMers794726741
23andMe allrs794726741
SNP Nexus

SNPshotrs794726741
SNPdbers794726741
MSV3drs794726741
GWAS Ctlgrs794726741
Max Magnitude0
ClinVar
Risk rs794726741(GGTC;GGTC)
Alt rs794726741(GGTC;GGTC)
Reference rs794726741(;)
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.166848433_166848436dupGACC
CLNSRC Peking University
CLNACC RCV000180850.1,