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rs794726704

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726704(-;-)
Make rs794726704(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166044045
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726704
ebirs794726704
HLIrs794726704
Exacrs794726704
Varsomers794726704
Maprs794726704
PheGenIrs794726704
hapmaprs794726704
1000 genomesrs794726704
hgdprs794726704
ensemblrs794726704
gopubmedrs794726704
geneviewrs794726704
scholarrs794726704
googlers794726704
pharmgkbrs794726704
gwascentralrs794726704
openSNPrs794726704
23andMers794726704
23andMe allrs794726704
SNP Nexus

SNPshotrs794726704
SNPdbers794726704
MSV3drs794726704
GWAS Ctlgrs794726704
Max Magnitude0
ClinVar
Risk rs794726704(;)
Alt rs794726704(;)
Reference rs794726704(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.166900555delA
CLNSRC Peking University
CLNACC RCV000180807.1,