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rs794726832

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs794726832(-;-)
Make rs794726832(-;TT)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165991977
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726832
ebirs794726832
HLIrs794726832
Exacrs794726832
Varsomers794726832
Maprs794726832
PheGenIrs794726832
hapmaprs794726832
1000 genomesrs794726832
hgdprs794726832
ensemblrs794726832
gopubmedrs794726832
geneviewrs794726832
scholarrs794726832
googlers794726832
pharmgkbrs794726832
gwascentralrs794726832
openSNPrs794726832
23andMers794726832
23andMe allrs794726832
SNP Nexus

SNPshotrs794726832
SNPdbers794726832
MSV3drs794726832
GWAS Ctlgrs794726832
Max Magnitude0
ClinVar
Risk rs794726832(;)
Alt rs794726832(;)
Reference rs794726832(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.166848487_166848488delAA
CLNSRC Peking University
CLNACC RCV000180959.1,