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rs121918745

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918745(C;T)
Make rs121918745(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position166058618
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121918745
dbSNP (old)rs121918745
ClinGenrs121918745
ebirs121918745
HLIrs121918745
Exacrs121918745
Gnomadrs121918745
Varsomers121918745
LitVarrs121918745
Maprs121918745
PheGenIrs121918745
Biobankrs121918745
1000 genomesrs121918745
hgdprs121918745
ensemblrs121918745
gopubmedrs121918745
geneviewrs121918745
scholarrs121918745
googlers121918745
pharmgkbrs121918745
gwascentralrs121918745
openSNPrs121918745
23andMers121918745
23andMe allrs121918745
SNPshotrs121918745
SNPdbers121918745
MSV3drs121918745
GWAS Ctlgrs121918745
Max Magnitude0
ClinVar
Risk rs121918745(T;T)
Alt rs121918745(T;T)
Reference Rs121918745(C;C)
Significance Probable-Pathogenic
Disease Severe myoclonic epilepsy in infancy not provided
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy not provided
Reversed 1
HGVS NC_000002.11:g.166915128G>A
CLNSRC UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000059492.1, RCV000433130.1,