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rs794726770

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726770(C;C)
Make rs794726770(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166012282
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726770
ebirs794726770
HLIrs794726770
Exacrs794726770
Varsomers794726770
Maprs794726770
PheGenIrs794726770
hapmaprs794726770
1000 genomesrs794726770
hgdprs794726770
ensemblrs794726770
gopubmedrs794726770
geneviewrs794726770
scholarrs794726770
googlers794726770
pharmgkbrs794726770
gwascentralrs794726770
openSNPrs794726770
23andMers794726770
23andMe allrs794726770
SNP Nexus

SNPshotrs794726770
SNPdbers794726770
MSV3drs794726770
GWAS Ctlgrs794726770
Max Magnitude0
ClinVar
Risk rs794726770(C;C)
Alt rs794726770(C;C)
Reference rs794726770(G;G)
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.166868792C>G
CLNSRC Peking University
CLNACC RCV000180886.1,