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rs398123588

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123588(A;A)
Make rs398123588(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position166039436
GeneSCN1A
is asnp
is mentioned by
dbSNPrs398123588
ebirs398123588
HLIrs398123588
Exacrs398123588
Varsomers398123588
Maprs398123588
PheGenIrs398123588
hapmaprs398123588
1000 genomesrs398123588
hgdprs398123588
ensemblrs398123588
gopubmedrs398123588
geneviewrs398123588
scholarrs398123588
googlers398123588
pharmgkbrs398123588
gwascentralrs398123588
openSNPrs398123588
23andMers398123588
23andMe allrs398123588
SNP Nexus

SNPshotrs398123588
SNPdbers398123588
MSV3drs398123588
GWAS Ctlgrs398123588
Max Magnitude0
ClinVar
Risk rs398123588(A;A)
Alt rs398123588(A;A)
Reference rs398123588(G;G)
Significance Pathogenic
Disease Generalized epilepsy with febrile seizures plus Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166895946C>T
CLNSRC HGMD
CLNACC RCV000079567.4, RCV000174715.1,