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rs794726734

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726734(A;C)
Make rs794726734(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165999719
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726734
ebirs794726734
HLIrs794726734
Exacrs794726734
Varsomers794726734
Maprs794726734
PheGenIrs794726734
hapmaprs794726734
1000 genomesrs794726734
hgdprs794726734
ensemblrs794726734
gopubmedrs794726734
geneviewrs794726734
scholarrs794726734
googlers794726734
pharmgkbrs794726734
gwascentralrs794726734
openSNPrs794726734
23andMers794726734
23andMe allrs794726734
SNP Nexus

SNPshotrs794726734
SNPdbers794726734
MSV3drs794726734
GWAS Ctlgrs794726734
Max Magnitude0
ClinVar
Risk rs794726734(C;C)
Alt rs794726734(C;C)
Reference rs794726734(A;A)
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.166856229T>G
CLNSRC Peking University
CLNACC RCV000180842.1,