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rs794726835

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726835(A;T)
Make rs794726835(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165996045
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726835
ebirs794726835
HLIrs794726835
Exacrs794726835
Varsomers794726835
Maprs794726835
PheGenIrs794726835
hapmaprs794726835
1000 genomesrs794726835
hgdprs794726835
ensemblrs794726835
gopubmedrs794726835
geneviewrs794726835
scholarrs794726835
googlers794726835
pharmgkbrs794726835
gwascentralrs794726835
openSNPrs794726835
23andMers794726835
23andMe allrs794726835
SNP Nexus

SNPshotrs794726835
SNPdbers794726835
MSV3drs794726835
GWAS Ctlgrs794726835
Max Magnitude0
ClinVar
Risk rs794726835(T;T)
Alt rs794726835(T;T)
Reference rs794726835(A;A)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166852555T>A
CLNSRC Peking University
CLNACC RCV000180963.1,