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rs121917993

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917993(C;T)
Make rs121917993(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165994212
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121917993
ebirs121917993
HLIrs121917993
Exacrs121917993
Varsomers121917993
Maprs121917993
PheGenIrs121917993
hapmaprs121917993
1000 genomesrs121917993
hgdprs121917993
ensemblrs121917993
gopubmedrs121917993
geneviewrs121917993
scholarrs121917993
googlers121917993
pharmgkbrs121917993
gwascentralrs121917993
openSNPrs121917993
23andMers121917993
23andMe allrs121917993
SNP Nexus

SNPshotrs121917993
SNPdbers121917993
MSV3drs121917993
GWAS Ctlgrs121917993
Max Magnitude0
ClinVar
Risk rs121917993(T;T)
Alt rs121917993(T;T)
Reference rs121917993(C;C)
Significance Pathogenic
Disease Focal epilepsy not provided
Variation info
Gene LOC102724058 SCN1A
CLNDBN Focal epilepsy not provided
Reversed 1
HGVS NC_000002.11:g.166850722G>A
CLNSRC UniProtKB (variants)
CLNACC RCV000059427.1, RCV000188978.2,