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rs794726788

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ATTATAATGG;ATTATAATGG) 0 common in clinvar
Make rs794726788(-;-)
Make rs794726788(-;ATTATAATGG)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166051778
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726788
ClinGenrs794726788
ebirs794726788
HLIrs794726788
Exacrs794726788
Varsomers794726788
Maprs794726788
PheGenIrs794726788
hapmaprs794726788
1000 genomesrs794726788
hgdprs794726788
ensemblrs794726788
gopubmedrs794726788
geneviewrs794726788
scholarrs794726788
googlers794726788
pharmgkbrs794726788
gwascentralrs794726788
openSNPrs794726788
23andMers794726788
23andMe allrs794726788
SNP Nexus

SNPshotrs794726788
SNPdbers794726788
MSV3drs794726788
GWAS Ctlgrs794726788
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs794726788(ATTATAATGG;ATTATAATGG)
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.166908288_166908297delCCATTATAAT
CLNSRC Peking University
CLNACC RCV000180904.1,