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rs794726775

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726775(A;T)
Make rs794726775(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166039420
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726775
ebirs794726775
HLIrs794726775
Exacrs794726775
Varsomers794726775
Maprs794726775
PheGenIrs794726775
hapmaprs794726775
1000 genomesrs794726775
hgdprs794726775
ensemblrs794726775
gopubmedrs794726775
geneviewrs794726775
scholarrs794726775
googlers794726775
pharmgkbrs794726775
gwascentralrs794726775
openSNPrs794726775
23andMers794726775
23andMe allrs794726775
SNP Nexus

SNPshotrs794726775
SNPdbers794726775
MSV3drs794726775
GWAS Ctlgrs794726775
Max Magnitude0
ClinVar
Risk rs794726775(T;T)
Alt rs794726775(T;T)
Reference rs794726775(A;A)
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.166895930T>A
CLNSRC Quest Diagnostics
CLNACC RCV000180891.2, RCV000188876.1,