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rs794726751

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726751(-;-)
Make rs794726751(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166051932
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726751
ebirs794726751
HLIrs794726751
Exacrs794726751
Varsomers794726751
Maprs794726751
PheGenIrs794726751
hapmaprs794726751
1000 genomesrs794726751
hgdprs794726751
ensemblrs794726751
gopubmedrs794726751
geneviewrs794726751
scholarrs794726751
googlers794726751
pharmgkbrs794726751
gwascentralrs794726751
openSNPrs794726751
23andMers794726751
23andMe allrs794726751
SNP Nexus

SNPshotrs794726751
SNPdbers794726751
MSV3drs794726751
GWAS Ctlgrs794726751
Max Magnitude0
ClinVar
Risk rs794726751(;)
Alt rs794726751(;)
Reference rs794726751(A;A)
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.166908442delT
CLNSRC Peking University
CLNACC RCV000180862.1,