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rs398123579

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123579(C;C)
Make rs398123579(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position166047769
GeneSCN1A
is asnp
is mentioned by
dbSNPrs398123579
ebirs398123579
HLIrs398123579
Exacrs398123579
Varsomers398123579
Maprs398123579
PheGenIrs398123579
hapmaprs398123579
1000 genomesrs398123579
hgdprs398123579
ensemblrs398123579
gopubmedrs398123579
geneviewrs398123579
scholarrs398123579
googlers398123579
pharmgkbrs398123579
gwascentralrs398123579
openSNPrs398123579
23andMers398123579
23andMe allrs398123579
SNP Nexus

SNPshotrs398123579
SNPdbers398123579
MSV3drs398123579
GWAS Ctlgrs398123579
Max Magnitude0
ClinVar
Risk rs398123579(C;C)
Alt rs398123579(C;C)
Reference rs398123579(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.166904279C>G
CLNSRC ClinVar
CLNACC RCV000079550.4, RCV000180211.1,