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

rs121917989

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917989(A;A)
Make rs121917989(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166046882
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121917989
ebirs121917989
HLIrs121917989
Exacrs121917989
Varsomers121917989
Maprs121917989
PheGenIrs121917989
hapmaprs121917989
1000 genomesrs121917989
hgdprs121917989
ensemblrs121917989
gopubmedrs121917989
geneviewrs121917989
scholarrs121917989
googlers121917989
pharmgkbrs121917989
gwascentralrs121917989
openSNPrs121917989
23andMers121917989
23andMe allrs121917989
SNP Nexus

SNPshotrs121917989
SNPdbers121917989
MSV3drs121917989
GWAS Ctlgrs121917989
Max Magnitude0
ClinVar
Risk rs121917989(A,C;A,C)
Alt rs121917989(A,C;A,C)
Reference rs121917989(T;T)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy Generalized epilepsy
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy Generalized epilepsy
Reversed 1
HGVS NC_000002.11:g.166903392A>G; NC_000002.11:g.166903392A>T
CLNSRC UniProtKB (variants)
CLNACC RCV000180872.1, RCV000059382.1,