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rs398123584

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123584(A;T)
Make rs398123584(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166043946
GeneSCN1A
is asnp
is mentioned by
dbSNPrs398123584
dbSNP (old)rs398123584
ClinGenrs398123584
ebirs398123584
HLIrs398123584
Exacrs398123584
Gnomadrs398123584
Varsomers398123584
Maprs398123584
PheGenIrs398123584
Biobankrs398123584
1000 genomesrs398123584
hgdprs398123584
ensemblrs398123584
gopubmedrs398123584
geneviewrs398123584
scholarrs398123584
googlers398123584
pharmgkbrs398123584
gwascentralrs398123584
openSNPrs398123584
23andMers398123584
23andMe allrs398123584
SNP Nexus

SNPshotrs398123584
SNPdbers398123584
MSV3drs398123584
GWAS Ctlgrs398123584
Max Magnitude0
ClinVar
Risk rs398123584(G;G) rs398123584(T;T)
Alt rs398123584(G;G) rs398123584(T;T)
Reference Rs398123584(A;A)
Significance Probable-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.166900456T>A
CLNSRC ClinVar Emory University
CLNACC RCV000079560.4, RCV000174049.1,