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rs398123590

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123590(A;A)
Make rs398123590(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position166013803
GeneSCN1A
is asnp
is mentioned by
dbSNPrs398123590
ebirs398123590
HLIrs398123590
Exacrs398123590
Varsomers398123590
Maprs398123590
PheGenIrs398123590
hapmaprs398123590
1000 genomesrs398123590
hgdprs398123590
ensemblrs398123590
gopubmedrs398123590
geneviewrs398123590
scholarrs398123590
googlers398123590
pharmgkbrs398123590
gwascentralrs398123590
openSNPrs398123590
23andMers398123590
23andMe allrs398123590
SNP Nexus

SNPshotrs398123590
SNPdbers398123590
MSV3drs398123590
GWAS Ctlgrs398123590
Max Magnitude0
ClinVar
Risk rs398123590(A;A)
Alt rs398123590(A;A)
Reference rs398123590(G;G)
Significance Probable-Pathogenic
Disease Generalized epilepsy with febrile seizures plus Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166870313C>T
CLNSRC ClinVar Emory University
CLNACC RCV000079575.4, RCV000175286.1,