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rs121917983

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917983(C;G)
Make rs121917983(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position166054644
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121917983
dbSNP (old)rs121917983
ClinGenrs121917983
ebirs121917983
HLIrs121917983
Exacrs121917983
Gnomadrs121917983
Varsomers121917983
Maprs121917983
PheGenIrs121917983
Biobankrs121917983
1000 genomesrs121917983
hgdprs121917983
ensemblrs121917983
gopubmedrs121917983
geneviewrs121917983
scholarrs121917983
googlers121917983
pharmgkbrs121917983
gwascentralrs121917983
openSNPrs121917983
23andMers121917983
23andMe allrs121917983
SNPshotrs121917983
SNPdbers121917983
MSV3drs121917983
GWAS Ctlgrs121917983
Max Magnitude0
ClinVar
Risk rs121917983(G;G)
Alt rs121917983(G;G)
Reference Rs121917983(C;C)
Significance Probable-Pathogenic
Disease not provided Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN not provided Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166911154G>A; NC_000002.11:g.166911154G>C
CLNSRC UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000494282.1, RCV000059452.1,