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rs121918625

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918625(C;T)
Make rs121918625(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166036521
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121918625
dbSNP (old)rs121918625
ClinGenrs121918625
ebirs121918625
HLIrs121918625
Exacrs121918625
Gnomadrs121918625
Varsomers121918625
Maprs121918625
PheGenIrs121918625
Biobankrs121918625
1000 genomesrs121918625
hgdprs121918625
ensemblrs121918625
gopubmedrs121918625
geneviewrs121918625
scholarrs121918625
googlers121918625
pharmgkbrs121918625
gwascentralrs121918625
openSNPrs121918625
23andMers121918625
23andMe allrs121918625
SNP Nexus

SNPshotrs121918625
SNPdbers121918625
MSV3drs121918625
GWAS Ctlgrs121918625
Max Magnitude0
OMIM182389
Desc
Variant0009
Relatedalso
OMIM607208
Desc
Variant
Relatedalso
ClinVar
Risk rs121918625(T;T)
Alt rs121918625(T;T)
Reference Rs121918625(C;C)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166893031G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000032605.19,


[PMID 11359211OA-icon.png] De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

[PMID 14672992] Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.