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rs121917955

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917955(C;G)
Make rs121917955(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position165992307
GeneLOC102724058, LOC102724067, SCN1A
is asnp
is mentioned by
dbSNPrs121917955
ebirs121917955
HLIrs121917955
Exacrs121917955
Varsomers121917955
Maprs121917955
PheGenIrs121917955
hapmaprs121917955
1000 genomesrs121917955
hgdprs121917955
ensemblrs121917955
gopubmedrs121917955
geneviewrs121917955
scholarrs121917955
googlers121917955
pharmgkbrs121917955
gwascentralrs121917955
openSNPrs121917955
23andMers121917955
23andMe allrs121917955
SNP Nexus

SNPshotrs121917955
SNPdbers121917955
MSV3drs121917955
GWAS Ctlgrs121917955
Max Magnitude0
OMIM182389
Desc
Variant0005
Relatedalso
OMIM604233
Desc
Variant
Relatedalso
ClinVar
Risk rs121917955(G;G)
Alt rs121917955(G;G)
Reference rs121917955(C;C)
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.166848817G>C
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000013746.17, RCV000059433.1,


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