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rs794726711

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726711(A;A)
Make rs794726711(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166058616
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726711
ebirs794726711
HLIrs794726711
Exacrs794726711
Varsomers794726711
Maprs794726711
PheGenIrs794726711
hapmaprs794726711
1000 genomesrs794726711
hgdprs794726711
ensemblrs794726711
gopubmedrs794726711
geneviewrs794726711
scholarrs794726711
googlers794726711
pharmgkbrs794726711
gwascentralrs794726711
openSNPrs794726711
23andMers794726711
23andMe allrs794726711
SNP Nexus

SNPshotrs794726711
SNPdbers794726711
MSV3drs794726711
GWAS Ctlgrs794726711
Max Magnitude0
ClinVar
Risk rs794726711(A;A)
Alt rs794726711(A;A)
Reference rs794726711(C;C)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy not provided
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy not provided
Reversed 1
HGVS NC_000002.11:g.166915126G>T
CLNSRC Peking University
CLNACC RCV000180815.1, RCV000188831.2,