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rs794726820

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs794726820(-;-)
Make rs794726820(-;T)
Make rs794726820(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166041327
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726820
ebirs794726820
HLIrs794726820
Exacrs794726820
Varsomers794726820
Maprs794726820
PheGenIrs794726820
hapmaprs794726820
1000 genomesrs794726820
hgdprs794726820
ensemblrs794726820
gopubmedrs794726820
geneviewrs794726820
scholarrs794726820
googlers794726820
pharmgkbrs794726820
gwascentralrs794726820
openSNPrs794726820
23andMers794726820
23andMe allrs794726820
SNP Nexus

SNPshotrs794726820
SNPdbers794726820
MSV3drs794726820
GWAS Ctlgrs794726820
Max Magnitude0
ClinVar
Risk rs794726820(T;T)
Alt rs794726820(T;T)
Reference rs794726820(;)
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.166897837_166897838insA
CLNSRC Peking University
CLNACC RCV000180945.1,