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rs794726705

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs794726705(-;-)
Make rs794726705(-;TT)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166002511
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726705
ebirs794726705
HLIrs794726705
Exacrs794726705
Varsomers794726705
Maprs794726705
PheGenIrs794726705
hapmaprs794726705
1000 genomesrs794726705
hgdprs794726705
ensemblrs794726705
gopubmedrs794726705
geneviewrs794726705
scholarrs794726705
googlers794726705
pharmgkbrs794726705
gwascentralrs794726705
openSNPrs794726705
23andMers794726705
23andMe allrs794726705
SNP Nexus

SNPshotrs794726705
SNPdbers794726705
MSV3drs794726705
GWAS Ctlgrs794726705
Max Magnitude0
ClinVar
Risk rs794726705(;)
Alt rs794726705(;)
Reference rs794726705(TT;TT)
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.166859021_166859022delAA
CLNSRC Peking University
CLNACC RCV000180808.1,