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rs121917949

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917949(G;G)
Make rs121917949(G;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position165992134
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121917949
ebirs121917949
HLIrs121917949
Exacrs121917949
Varsomers121917949
Maprs121917949
PheGenIrs121917949
hapmaprs121917949
1000 genomesrs121917949
hgdprs121917949
ensemblrs121917949
gopubmedrs121917949
geneviewrs121917949
scholarrs121917949
googlers121917949
pharmgkbrs121917949
gwascentralrs121917949
openSNPrs121917949
23andMers121917949
23andMe allrs121917949
SNP Nexus

SNPshotrs121917949
SNPdbers121917949
MSV3drs121917949
GWAS Ctlgrs121917949
Max Magnitude0
ClinVar
Risk rs121917949(C,G;C,G)
Alt rs121917949(C,G;C,G)
Reference rs121917949(T;T)
Significance Probable-Pathogenic
Disease Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2
Reversed 1
HGVS NC_000002.11:g.166848644A>C; NC_000002.11:g.166848644A>G
CLNSRC UniProtKB (variants)
CLNACC RCV000059439.1, RCV000079588.4, RCV000176631.1,