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rs121918630

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918630(G;T)
Make rs121918630(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position165994167
GeneLOC102724058, LOC102724067, SCN1A
is asnp
is mentioned by
dbSNPrs121918630
ebirs121918630
HLIrs121918630
Exacrs121918630
Varsomers121918630
Maprs121918630
PheGenIrs121918630
hapmaprs121918630
1000 genomesrs121918630
hgdprs121918630
ensemblrs121918630
gopubmedrs121918630
geneviewrs121918630
scholarrs121918630
googlers121918630
pharmgkbrs121918630
gwascentralrs121918630
openSNPrs121918630
23andMers121918630
23andMe allrs121918630
SNP Nexus

SNPshotrs121918630
SNPdbers121918630
MSV3drs121918630
GWAS Ctlgrs121918630
Max Magnitude0
OMIM182389
Desc
Variant0014
Relatedalso
OMIM607208
Desc
Variant
Relatedalso
ClinVar
Risk rs121918630(T;T)
Alt rs121918630(T;T)
Reference rs121918630(G;G)
Significance 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.166850677C>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000013756.24, RCV000013757.23,


[PMID 12566275] Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.