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rs794726800

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726800(A;A)
Make rs794726800(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165994187
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726800
ebirs794726800
HLIrs794726800
Exacrs794726800
Varsomers794726800
Maprs794726800
PheGenIrs794726800
hapmaprs794726800
1000 genomesrs794726800
hgdprs794726800
ensemblrs794726800
gopubmedrs794726800
geneviewrs794726800
scholarrs794726800
googlers794726800
pharmgkbrs794726800
gwascentralrs794726800
openSNPrs794726800
23andMers794726800
23andMe allrs794726800
SNP Nexus

SNPshotrs794726800
SNPdbers794726800
MSV3drs794726800
GWAS Ctlgrs794726800
Max Magnitude0
ClinVar
Risk rs794726800(A;A)
Alt rs794726800(A;A)
Reference rs794726800(G;G)
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.166850697C>T
CLNSRC Peking University
CLNACC RCV000180918.1,