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rs121917929

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917929(C;T)
Make rs121917929(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166046970
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121917929
ebirs121917929
HLIrs121917929
Exacrs121917929
Varsomers121917929
Maprs121917929
PheGenIrs121917929
hapmaprs121917929
1000 genomesrs121917929
hgdprs121917929
ensemblrs121917929
gopubmedrs121917929
geneviewrs121917929
scholarrs121917929
googlers121917929
pharmgkbrs121917929
gwascentralrs121917929
openSNPrs121917929
23andMers121917929
23andMe allrs121917929
SNP Nexus

SNPshotrs121917929
SNPdbers121917929
MSV3drs121917929
GWAS Ctlgrs121917929
Max Magnitude0
ClinVar
Risk rs121917929(A,T;A,T)
Alt rs121917929(A,T;A,T)
Reference rs121917929(C;C)
Significance 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.166903480G>A; NC_000002.11:g.166903480G>T
CLNSRC UniProtKB (variants)
CLNACC RCV000059377.2, RCV000188854.1, RCV000059376.1,