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rs794726796

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAGG;AAGG) 0 common in clinvar
Make rs794726796(-;-)
Make rs794726796(-;AAGG)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166058661
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726796
dbSNP (old)rs794726796
ClinGenrs794726796
ebirs794726796
HLIrs794726796
Exacrs794726796
Varsomers794726796
Maprs794726796
PheGenIrs794726796
Biobankrs794726796
1000 genomesrs794726796
hgdprs794726796
ensemblrs794726796
gopubmedrs794726796
geneviewrs794726796
scholarrs794726796
googlers794726796
pharmgkbrs794726796
gwascentralrs794726796
openSNPrs794726796
23andMers794726796
23andMe allrs794726796
SNP Nexus

SNPshotrs794726796
SNPdbers794726796
MSV3drs794726796
GWAS Ctlgrs794726796
Max Magnitude0
ClinVar
Risk rs794726796(-;-)
Alt rs794726796(-;-)
Reference Rs794726796(AAGG;AAGG)
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.166915171_166915174delCCTT
CLNSRC Peking University
CLNACC RCV000180913.1,