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rs794726717

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs794726717(-;-)
Make rs794726717(-;C)
Make rs794726717(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position166045045
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726717
ebirs794726717
HLIrs794726717
Exacrs794726717
Varsomers794726717
Maprs794726717
PheGenIrs794726717
hapmaprs794726717
1000 genomesrs794726717
hgdprs794726717
ensemblrs794726717
gopubmedrs794726717
geneviewrs794726717
scholarrs794726717
googlers794726717
pharmgkbrs794726717
gwascentralrs794726717
openSNPrs794726717
23andMers794726717
23andMe allrs794726717
SNP Nexus

SNPshotrs794726717
SNPdbers794726717
MSV3drs794726717
GWAS Ctlgrs794726717
Max Magnitude0
ClinVar
Risk rs794726717(C;C)
Alt rs794726717(C;C)
Reference rs794726717(;)
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.166901556dupG
CLNSRC Peking University
CLNACC RCV000180821.1,