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

rs121917957

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917957(A;A)
Make rs121917957(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166047667
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121917957
ebirs121917957
HLIrs121917957
Exacrs121917957
Varsomers121917957
Maprs121917957
PheGenIrs121917957
hapmaprs121917957
1000 genomesrs121917957
hgdprs121917957
ensemblrs121917957
gopubmedrs121917957
geneviewrs121917957
scholarrs121917957
googlers121917957
pharmgkbrs121917957
gwascentralrs121917957
openSNPrs121917957
23andMers121917957
23andMe allrs121917957
SNP Nexus

SNPshotrs121917957
SNPdbers121917957
MSV3drs121917957
GWAS Ctlgrs121917957
Max Magnitude0
ClinVar
Risk rs121917957(A;A)
Alt rs121917957(A;A)
Reference rs121917957(G;G)
Significance Pathogenic
Disease Generalized epilepsy with febrile seizures plus Severe myoclonic epilepsy in infancy not provided
Variation info
Gene SCN1A
CLNDBN Generalized epilepsy with febrile seizures plus, type 1 Severe myoclonic epilepsy in infancy not provided
Reversed 1
HGVS NC_000002.11:g.166904177C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000059374.1, RCV000180936.1, RCV000188861.2,