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rs794726730

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726730(C;T)
Make rs794726730(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166042334
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726730
ebirs794726730
HLIrs794726730
Exacrs794726730
Varsomers794726730
Maprs794726730
PheGenIrs794726730
hapmaprs794726730
1000 genomesrs794726730
hgdprs794726730
ensemblrs794726730
gopubmedrs794726730
geneviewrs794726730
scholarrs794726730
googlers794726730
pharmgkbrs794726730
gwascentralrs794726730
openSNPrs794726730
23andMers794726730
23andMe allrs794726730
SNP Nexus

SNPshotrs794726730
SNPdbers794726730
MSV3drs794726730
GWAS Ctlgrs794726730
Max Magnitude0
ClinVar
Risk rs794726730(T;T)
Alt rs794726730(T;T)
Reference rs794726730(C;C)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus not provided
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 not provided
Reversed 1
HGVS NC_000002.11:g.166898844G>A
CLNSRC Quest Diagnostics
CLNACC RCV000174291.3, RCV000174292.1, RCV000188886.1,