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rs121917954

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917954(C;C)
Make rs121917954(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position166002699
GeneLOC102724058, LOC102724067, SCN1A
is asnp
is mentioned by
dbSNPrs121917954
ebirs121917954
HLIrs121917954
Exacrs121917954
Varsomers121917954
Maprs121917954
PheGenIrs121917954
hapmaprs121917954
1000 genomesrs121917954
hgdprs121917954
ensemblrs121917954
gopubmedrs121917954
geneviewrs121917954
scholarrs121917954
googlers121917954
pharmgkbrs121917954
gwascentralrs121917954
openSNPrs121917954
23andMers121917954
23andMe allrs121917954
SNP Nexus

SNPshotrs121917954
SNPdbers121917954
MSV3drs121917954
GWAS Ctlgrs121917954
Max Magnitude0
OMIM182389
Desc
Variant0004
Relatedalso
OMIM604233
Desc
Variant
Relatedalso
ClinVar
Risk rs121917954(C;C)
Alt rs121917954(C;C)
Reference rs121917954(G;G)
Significance Pathogenic
Disease Generalized epilepsy with febrile seizures plus Generalized epilepsy with febrile seizures plus
Variation info
Gene LOC102724058 SCN1A
CLNDBN Generalized epilepsy with febrile seizures plus, type 2 Generalized epilepsy with febrile seizures plus, type 1
Reversed 1
HGVS NC_000002.11:g.166859209C>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000013745.22, RCV000059409.1,


[PMID 11254444OA-icon.png] Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.