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rs121917951

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917951(C;T)
Make rs121917951(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position165991957
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121917951
dbSNP (old)rs121917951
ClinGenrs121917951
ebirs121917951
HLIrs121917951
Exacrs121917951
Gnomadrs121917951
Varsomers121917951
Maprs121917951
PheGenIrs121917951
Biobankrs121917951
1000 genomesrs121917951
hgdprs121917951
ensemblrs121917951
gopubmedrs121917951
geneviewrs121917951
scholarrs121917951
googlers121917951
pharmgkbrs121917951
gwascentralrs121917951
openSNPrs121917951
23andMers121917951
23andMe allrs121917951
SNPshotrs121917951
SNPdbers121917951
MSV3drs121917951
GWAS Ctlgrs121917951
Max Magnitude0
ClinVar
Risk rs121917951(A;A) rs121917951(T;T)
Alt rs121917951(A;A) rs121917951(T;T)
Reference Rs121917951(C;C)
Significance Probable-Pathogenic
Disease Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy
Reversed 1
HGVS NC_000002.11:g.166848467G>A; NC_000002.11:g.166848467G>T
CLNSRC UniProtKB (variants)
CLNACC RCV000059443.1, RCV000471658.1,