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rs794726736

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726736(C;T)
Make rs794726736(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166043974
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726736
ebirs794726736
HLIrs794726736
Exacrs794726736
Varsomers794726736
Maprs794726736
PheGenIrs794726736
hapmaprs794726736
1000 genomesrs794726736
hgdprs794726736
ensemblrs794726736
gopubmedrs794726736
geneviewrs794726736
scholarrs794726736
googlers794726736
pharmgkbrs794726736
gwascentralrs794726736
openSNPrs794726736
23andMers794726736
23andMe allrs794726736
SNP Nexus

SNPshotrs794726736
SNPdbers794726736
MSV3drs794726736
GWAS Ctlgrs794726736
Max Magnitude0
ClinVar
Risk rs794726736(T;T)
Alt rs794726736(T;T)
Reference rs794726736(C;C)
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.166900484G>A
CLNSRC Peking University
CLNACC RCV000180844.1,