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rs794726755

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726755(A;A)
Make rs794726755(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166051955
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726755
ebirs794726755
HLIrs794726755
Exacrs794726755
Varsomers794726755
Maprs794726755
PheGenIrs794726755
hapmaprs794726755
1000 genomesrs794726755
hgdprs794726755
ensemblrs794726755
gopubmedrs794726755
geneviewrs794726755
scholarrs794726755
googlers794726755
pharmgkbrs794726755
gwascentralrs794726755
openSNPrs794726755
23andMers794726755
23andMe allrs794726755
SNP Nexus

SNPshotrs794726755
SNPdbers794726755
MSV3drs794726755
GWAS Ctlgrs794726755
Max Magnitude0
ClinVar
Risk rs794726755(A;A)
Alt rs794726755(A;A)
Reference rs794726755(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.166908465G>T
CLNSRC Peking University
CLNACC RCV000180867.1,