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rs794726760

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726760(C;T)
Make rs794726760(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165992278
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726760
ebirs794726760
HLIrs794726760
Exacrs794726760
Varsomers794726760
Maprs794726760
PheGenIrs794726760
hapmaprs794726760
1000 genomesrs794726760
hgdprs794726760
ensemblrs794726760
gopubmedrs794726760
geneviewrs794726760
scholarrs794726760
googlers794726760
pharmgkbrs794726760
gwascentralrs794726760
openSNPrs794726760
23andMers794726760
23andMe allrs794726760
SNP Nexus

SNPshotrs794726760
SNPdbers794726760
MSV3drs794726760
GWAS Ctlgrs794726760
Max Magnitude0
ClinVar
Risk rs794726760(T;T)
Alt rs794726760(T;T)
Reference rs794726760(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.166848788G>A
CLNSRC Peking University
CLNACC RCV000180874.1,