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rs794726827

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726827(G;T)
Make rs794726827(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166054637
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726827
ebirs794726827
HLIrs794726827
Exacrs794726827
Varsomers794726827
Maprs794726827
PheGenIrs794726827
hapmaprs794726827
1000 genomesrs794726827
hgdprs794726827
ensemblrs794726827
gopubmedrs794726827
geneviewrs794726827
scholarrs794726827
googlers794726827
pharmgkbrs794726827
gwascentralrs794726827
openSNPrs794726827
23andMers794726827
23andMe allrs794726827
SNP Nexus

SNPshotrs794726827
SNPdbers794726827
MSV3drs794726827
GWAS Ctlgrs794726827
Max Magnitude0
ClinVar
Risk rs794726827(A,C,T;A,C,T)
Alt rs794726827(A,C,T;A,C,T)
Reference rs794726827(G;G)
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.166911147C>A; NC_000002.11:g.166911147C>G; NC_000002.11:g.166911147C>T
CLNSRC Peking University
CLNACC RCV000180953.1, RCV000188837.1, RCV000178154.1, RCV000188832.1,