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rs121918738

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918738(A;A)
Make rs121918738(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166013820
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121918738
ebirs121918738
HLIrs121918738
Exacrs121918738
Varsomers121918738
Maprs121918738
PheGenIrs121918738
hapmaprs121918738
1000 genomesrs121918738
hgdprs121918738
ensemblrs121918738
gopubmedrs121918738
geneviewrs121918738
scholarrs121918738
googlers121918738
pharmgkbrs121918738
gwascentralrs121918738
openSNPrs121918738
23andMers121918738
23andMe allrs121918738
SNP Nexus

SNPshotrs121918738
SNPdbers121918738
MSV3drs121918738
GWAS Ctlgrs121918738
Max Magnitude0
ClinVar
Risk rs121918738(A,T;A,T)
Alt rs121918738(A,T;A,T)
Reference rs121918738(C;C)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166870330G>T
CLNSRC UniProtKB (variants)
CLNACC RCV000059494.2,