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rs794726786

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726786(A;A)
Make rs794726786(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166038107
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726786
ebirs794726786
HLIrs794726786
Exacrs794726786
Varsomers794726786
Maprs794726786
PheGenIrs794726786
hapmaprs794726786
1000 genomesrs794726786
hgdprs794726786
ensemblrs794726786
gopubmedrs794726786
geneviewrs794726786
scholarrs794726786
googlers794726786
pharmgkbrs794726786
gwascentralrs794726786
openSNPrs794726786
23andMers794726786
23andMe allrs794726786
SNP Nexus

SNPshotrs794726786
SNPdbers794726786
MSV3drs794726786
GWAS Ctlgrs794726786
Max Magnitude0
ClinVar
Risk rs794726786(A;A)
Alt rs794726786(A;A)
Reference rs794726786(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.166894617G>T
CLNSRC Peking University
CLNACC RCV000180902.1,