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rs794726718

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726718(A;A)
Make rs794726718(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166037930
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726718
ebirs794726718
HLIrs794726718
Exacrs794726718
Varsomers794726718
Maprs794726718
PheGenIrs794726718
hapmaprs794726718
1000 genomesrs794726718
hgdprs794726718
ensemblrs794726718
gopubmedrs794726718
geneviewrs794726718
scholarrs794726718
googlers794726718
pharmgkbrs794726718
gwascentralrs794726718
openSNPrs794726718
23andMers794726718
23andMe allrs794726718
SNP Nexus

SNPshotrs794726718
SNPdbers794726718
MSV3drs794726718
GWAS Ctlgrs794726718
Max Magnitude0
ClinVar
Risk rs794726718(A,C;A,C)
Alt rs794726718(A,C;A,C)
Reference rs794726718(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.166894440C>G; NC_000002.11:g.166894440C>T
CLNSRC Quest Diagnostics
CLNACC RCV000180915.1, RCV000189084.1, RCV000180822.2,