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rs794726812

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs794726812(-;-)
Make rs794726812(-;GTATA)
Make rs794726812(GTATA;GTATA)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166051857
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726812
ebirs794726812
HLIrs794726812
Exacrs794726812
Varsomers794726812
Maprs794726812
PheGenIrs794726812
hapmaprs794726812
1000 genomesrs794726812
hgdprs794726812
ensemblrs794726812
gopubmedrs794726812
geneviewrs794726812
scholarrs794726812
googlers794726812
pharmgkbrs794726812
gwascentralrs794726812
openSNPrs794726812
23andMers794726812
23andMe allrs794726812
SNP Nexus

SNPshotrs794726812
SNPdbers794726812
MSV3drs794726812
GWAS Ctlgrs794726812
Max Magnitude0
ClinVar
Risk rs794726812(GTATA;GTATA)
Alt rs794726812(GTATA;GTATA)
Reference rs794726812(;)
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.166908367_166908368insTATAC
CLNSRC Peking University
CLNACC RCV000180934.1,