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rs398123599

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123599(-;-)
Make rs398123599(-;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position165991736
GeneSCN1A
is asnp
is mentioned by
dbSNPrs398123599
ebirs398123599
HLIrs398123599
Exacrs398123599
Varsomers398123599
Maprs398123599
PheGenIrs398123599
hapmaprs398123599
1000 genomesrs398123599
hgdprs398123599
ensemblrs398123599
gopubmedrs398123599
geneviewrs398123599
scholarrs398123599
googlers398123599
pharmgkbrs398123599
gwascentralrs398123599
openSNPrs398123599
23andMers398123599
23andMe allrs398123599
SNP Nexus

SNPshotrs398123599
SNPdbers398123599
MSV3drs398123599
GWAS Ctlgrs398123599
Max Magnitude0
ClinVar
Risk rs398123599(;)
Alt rs398123599(;)
Reference rs398123599(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.166848246delG
CLNSRC ClinVar
CLNACC RCV000079590.4, RCV000176630.1,