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rs794726837

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726837(G;G)
Make rs794726837(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166051705
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726837
ebirs794726837
HLIrs794726837
Exacrs794726837
Varsomers794726837
Maprs794726837
PheGenIrs794726837
hapmaprs794726837
1000 genomesrs794726837
hgdprs794726837
ensemblrs794726837
gopubmedrs794726837
geneviewrs794726837
scholarrs794726837
googlers794726837
pharmgkbrs794726837
gwascentralrs794726837
openSNPrs794726837
23andMers794726837
23andMe allrs794726837
SNP Nexus

SNPshotrs794726837
SNPdbers794726837
MSV3drs794726837
GWAS Ctlgrs794726837
Max Magnitude0
ClinVar
Risk rs794726837(G;G)
Alt rs794726837(G;G)
Reference rs794726837(T;T)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166908215A>C
CLNSRC Peking University
CLNACC RCV000180965.1,