Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918775

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918775(C;T)
Make rs121918775(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position166037886
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121918775
ebirs121918775
HLIrs121918775
Exacrs121918775
Varsomers121918775
Maprs121918775
PheGenIrs121918775
hapmaprs121918775
1000 genomesrs121918775
hgdprs121918775
ensemblrs121918775
gopubmedrs121918775
geneviewrs121918775
scholarrs121918775
googlers121918775
pharmgkbrs121918775
gwascentralrs121918775
openSNPrs121918775
23andMers121918775
23andMe allrs121918775
SNP Nexus

SNPshotrs121918775
SNPdbers121918775
MSV3drs121918775
GWAS Ctlgrs121918775
Max Magnitude0
ClinVar
Risk rs121918775(A,T;A,T)
Alt rs121918775(A,T;A,T)
Reference rs121918775(C;C)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus not provided
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 not provided
Reversed 1
HGVS NC_000002.11:g.166894396G>A; NC_000002.11:g.166894396G>T
CLNSRC UniProtKB (variants)
CLNACC RCV000059481.3, RCV000118240.1, RCV000189085.1, RCV000059480.1,