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rs794726818

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs794726818(-;-)
Make rs794726818(-;CA)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166046949
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726818
ebirs794726818
HLIrs794726818
Exacrs794726818
Varsomers794726818
Maprs794726818
PheGenIrs794726818
hapmaprs794726818
1000 genomesrs794726818
hgdprs794726818
ensemblrs794726818
gopubmedrs794726818
geneviewrs794726818
scholarrs794726818
googlers794726818
pharmgkbrs794726818
gwascentralrs794726818
openSNPrs794726818
23andMers794726818
23andMe allrs794726818
SNP Nexus

SNPshotrs794726818
SNPdbers794726818
MSV3drs794726818
GWAS Ctlgrs794726818
Max Magnitude0
ClinVar
Risk rs794726818(;)
Alt rs794726818(;)
Reference rs794726818(CA;CA)
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.166903459_166903460delTG
CLNSRC Peking University
CLNACC RCV000180943.1,