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rs121917923

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917923(A;A)
Make rs121917923(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166047725
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121917923
ebirs121917923
HLIrs121917923
Exacrs121917923
Varsomers121917923
Maprs121917923
PheGenIrs121917923
hapmaprs121917923
1000 genomesrs121917923
hgdprs121917923
ensemblrs121917923
gopubmedrs121917923
geneviewrs121917923
scholarrs121917923
googlers121917923
pharmgkbrs121917923
gwascentralrs121917923
openSNPrs121917923
23andMers121917923
23andMe allrs121917923
SNP Nexus

SNPshotrs121917923
SNPdbers121917923
MSV3drs121917923
GWAS Ctlgrs121917923
Max Magnitude0
ClinVar
Risk rs121917923(A,T;A,T)
Alt rs121917923(A,T;A,T)
Reference rs121917923(C;C)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166904235G>A; NC_000002.11:g.166904235G>T
CLNSRC UniProtKB (variants)
CLNACC RCV000180825.1, RCV000059372.1,