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rs121918748

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918748(C;C)
Make rs121918748(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position165991783
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121918748
dbSNP (old)rs121918748
ClinGenrs121918748
ebirs121918748
HLIrs121918748
Exacrs121918748
Gnomadrs121918748
Varsomers121918748
Maprs121918748
PheGenIrs121918748
Biobankrs121918748
1000 genomesrs121918748
hgdprs121918748
ensemblrs121918748
gopubmedrs121918748
geneviewrs121918748
scholarrs121918748
googlers121918748
pharmgkbrs121918748
gwascentralrs121918748
openSNPrs121918748
23andMers121918748
23andMe allrs121918748
SNPshotrs121918748
SNPdbers121918748
MSV3drs121918748
GWAS Ctlgrs121918748
Max Magnitude0
ClinVar
Risk rs121918748(C;C) rs121918748(G;G)
Alt rs121918748(C;C) rs121918748(G;G)
Reference Rs121918748(T;T)
Significance Pathogenic
Disease not provided Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN not provided Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166848293A>C; NC_000002.11:g.166848293A>G
CLNSRC UniProtKB (variants)
CLNACC RCV000478355.1, RCV000059543.1,