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rs794726698

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726698(C;G)
Make rs794726698(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165992272
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726698
ebirs794726698
HLIrs794726698
Exacrs794726698
Varsomers794726698
Maprs794726698
PheGenIrs794726698
hapmaprs794726698
1000 genomesrs794726698
hgdprs794726698
ensemblrs794726698
gopubmedrs794726698
geneviewrs794726698
scholarrs794726698
googlers794726698
pharmgkbrs794726698
gwascentralrs794726698
openSNPrs794726698
23andMers794726698
23andMe allrs794726698
SNP Nexus

SNPshotrs794726698
SNPdbers794726698
MSV3drs794726698
GWAS Ctlgrs794726698
Max Magnitude0
ClinVar
Risk rs794726698(G;G)
Alt rs794726698(G;G)
Reference rs794726698(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.166848782G>C
CLNSRC Peking University
CLNACC RCV000180799.1,