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rs398123593

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123593(C;T)
Make rs398123593(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166002537
GeneSCN1A
is asnp
is mentioned by
dbSNPrs398123593
ebirs398123593
HLIrs398123593
Exacrs398123593
Varsomers398123593
Maprs398123593
PheGenIrs398123593
hapmaprs398123593
1000 genomesrs398123593
hgdprs398123593
ensemblrs398123593
gopubmedrs398123593
geneviewrs398123593
scholarrs398123593
googlers398123593
pharmgkbrs398123593
gwascentralrs398123593
openSNPrs398123593
23andMers398123593
23andMe allrs398123593
SNP Nexus

SNPshotrs398123593
SNPdbers398123593
MSV3drs398123593
GWAS Ctlgrs398123593
Max Magnitude0
ClinVar
Risk rs398123593(T;T)
Alt rs398123593(T;T)
Reference rs398123593(C;C)
Significance 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.166859047G>A
CLNSRC HGMD
CLNACC RCV000079581.4, RCV000176177.1,