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rs121918783

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918783(C;C)
Make rs121918783(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165991720
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121918783
ebirs121918783
HLIrs121918783
Exacrs121918783
Varsomers121918783
Maprs121918783
PheGenIrs121918783
hapmaprs121918783
1000 genomesrs121918783
hgdprs121918783
ensemblrs121918783
gopubmedrs121918783
geneviewrs121918783
scholarrs121918783
googlers121918783
pharmgkbrs121918783
gwascentralrs121918783
openSNPrs121918783
23andMers121918783
23andMe allrs121918783
SNP Nexus

SNPshotrs121918783
SNPdbers121918783
MSV3drs121918783
GWAS Ctlgrs121918783
Max Magnitude0
ClinVar
Risk rs121918783(C;C)
Alt rs121918783(C;C)
Reference rs121918783(T;T)
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 1 Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166848230A>G
CLNSRC UniProtKB (variants)
CLNACC RCV000059544.1, RCV000180879.1,