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rs121918813

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918813(A;A)
Make rs121918813(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position165991892
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121918813
dbSNP (old)rs121918813
ClinGenrs121918813
ebirs121918813
HLIrs121918813
Exacrs121918813
Gnomadrs121918813
Varsomers121918813
Maprs121918813
PheGenIrs121918813
Biobankrs121918813
1000 genomesrs121918813
hgdprs121918813
ensemblrs121918813
gopubmedrs121918813
geneviewrs121918813
scholarrs121918813
googlers121918813
pharmgkbrs121918813
gwascentralrs121918813
openSNPrs121918813
23andMers121918813
23andMe allrs121918813
SNPshotrs121918813
SNPdbers121918813
MSV3drs121918813
GWAS Ctlgrs121918813
Max Magnitude0
ClinVar
Risk rs121918813(A;A) rs121918813(C;C)
Alt rs121918813(A;A) rs121918813(C;C)
Reference Rs121918813(G;G)
Significance Probable-Pathogenic
Disease not provided Generalized epilepsy with febrile seizures plus not specified
Variation info
Gene LOC102724058 SCN1A
CLNDBN not provided Generalized epilepsy with febrile seizures plus, type 1 not specified
Reversed 1
HGVS NC_000002.11:g.166848402C>G; NC_000002.11:g.166848402C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000489481.1, RCV000059540.1, RCV000489760.1,