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rs794726771

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726771(C;C)
Make rs794726771(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166051914
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726771
ebirs794726771
HLIrs794726771
Exacrs794726771
Varsomers794726771
Maprs794726771
PheGenIrs794726771
hapmaprs794726771
1000 genomesrs794726771
hgdprs794726771
ensemblrs794726771
gopubmedrs794726771
geneviewrs794726771
scholarrs794726771
googlers794726771
pharmgkbrs794726771
gwascentralrs794726771
openSNPrs794726771
23andMers794726771
23andMe allrs794726771
SNP Nexus

SNPshotrs794726771
SNPdbers794726771
MSV3drs794726771
GWAS Ctlgrs794726771
Max Magnitude0
ClinVar
Risk rs794726771(C;C)
Alt rs794726771(C;C)
Reference rs794726771(T;T)
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.166908424A>G
CLNSRC Peking University
CLNACC RCV000180887.1, RCV000188845.1,