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rs121918737

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918737(G;G)
Make rs121918737(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166037868
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121918737
ebirs121918737
HLIrs121918737
Exacrs121918737
Varsomers121918737
Maprs121918737
PheGenIrs121918737
hapmaprs121918737
1000 genomesrs121918737
hgdprs121918737
ensemblrs121918737
gopubmedrs121918737
geneviewrs121918737
scholarrs121918737
googlers121918737
pharmgkbrs121918737
gwascentralrs121918737
openSNPrs121918737
23andMers121918737
23andMe allrs121918737
SNP Nexus

SNPshotrs121918737
SNPdbers121918737
MSV3drs121918737
GWAS Ctlgrs121918737
Max Magnitude0
ClinVar
Risk rs121918737(G;G)
Alt rs121918737(G;G)
Reference rs121918737(T;T)
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.166894378A>C
CLNSRC UniProtKB (variants)
CLNACC RCV000059482.2,