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rs794726695

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726695(-;-)
Make rs794726695(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166047679
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726695
ebirs794726695
HLIrs794726695
Exacrs794726695
Varsomers794726695
Maprs794726695
PheGenIrs794726695
hapmaprs794726695
1000 genomesrs794726695
hgdprs794726695
ensemblrs794726695
gopubmedrs794726695
geneviewrs794726695
scholarrs794726695
googlers794726695
pharmgkbrs794726695
gwascentralrs794726695
openSNPrs794726695
23andMers794726695
23andMe allrs794726695
SNP Nexus

SNPshotrs794726695
SNPdbers794726695
MSV3drs794726695
GWAS Ctlgrs794726695
Max Magnitude0
ClinVar
Risk rs794726695(;)
Alt rs794726695(;)
Reference rs794726695(T;T)
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.166904189delA
CLNSRC Peking University
CLNACC RCV000180796.1,