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rs398123580

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123580(-;-)
Make rs398123580(-;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166047635
GeneSCN1A
is asnp
is mentioned by
dbSNPrs398123580
ebirs398123580
HLIrs398123580
Exacrs398123580
Varsomers398123580
Maprs398123580
PheGenIrs398123580
hapmaprs398123580
1000 genomesrs398123580
hgdprs398123580
ensemblrs398123580
gopubmedrs398123580
geneviewrs398123580
scholarrs398123580
googlers398123580
pharmgkbrs398123580
gwascentralrs398123580
openSNPrs398123580
23andMers398123580
23andMe allrs398123580
SNP Nexus

SNPshotrs398123580
SNPdbers398123580
MSV3drs398123580
GWAS Ctlgrs398123580
Max Magnitude0
ClinVar
Risk rs398123580(;)
Alt rs398123580(;)
Reference rs398123580(T;T)
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.166904145delA
CLNSRC ClinVar
CLNACC RCV000079552.4, RCV000180210.1,