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rs794726784

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726784(A;A)
Make rs794726784(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166002533
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726784
ebirs794726784
HLIrs794726784
Exacrs794726784
Varsomers794726784
Maprs794726784
PheGenIrs794726784
hapmaprs794726784
1000 genomesrs794726784
hgdprs794726784
ensemblrs794726784
gopubmedrs794726784
geneviewrs794726784
scholarrs794726784
googlers794726784
pharmgkbrs794726784
gwascentralrs794726784
openSNPrs794726784
23andMers794726784
23andMe allrs794726784
SNP Nexus

SNPshotrs794726784
SNPdbers794726784
MSV3drs794726784
GWAS Ctlgrs794726784
Max Magnitude0
ClinVar
Risk rs794726784(A;A)
Alt rs794726784(A;A)
Reference rs794726784(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.166859043C>T
CLNSRC Peking University
CLNACC RCV000180900.1,