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rs794726762

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726762(C;C)
Make rs794726762(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166073353
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726762
ebirs794726762
HLIrs794726762
Exacrs794726762
Varsomers794726762
Maprs794726762
PheGenIrs794726762
hapmaprs794726762
1000 genomesrs794726762
hgdprs794726762
ensemblrs794726762
gopubmedrs794726762
geneviewrs794726762
scholarrs794726762
googlers794726762
pharmgkbrs794726762
gwascentralrs794726762
openSNPrs794726762
23andMers794726762
23andMe allrs794726762
SNP Nexus

SNPshotrs794726762
SNPdbers794726762
MSV3drs794726762
GWAS Ctlgrs794726762
Max Magnitude0
ClinVar
Risk rs794726762(A,C;A,C)
Alt rs794726762(A,C;A,C)
Reference rs794726762(G;G)
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.166929863C>G; NC_000002.11:g.166929863C>T
CLNSRC Quest Diagnostics
CLNACC RCV000180877.1, RCV000201121.1,