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rs121918622

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918622(A;A)
Make rs121918622(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position165992332
GeneLOC102724058, LOC102724067, SCN1A
is asnp
is mentioned by
dbSNPrs121918622
ebirs121918622
HLIrs121918622
Exacrs121918622
Varsomers121918622
Maprs121918622
PheGenIrs121918622
hapmaprs121918622
1000 genomesrs121918622
hgdprs121918622
ensemblrs121918622
gopubmedrs121918622
geneviewrs121918622
scholarrs121918622
googlers121918622
pharmgkbrs121918622
gwascentralrs121918622
openSNPrs121918622
23andMers121918622
23andMe allrs121918622
SNP Nexus

SNPshotrs121918622
SNPdbers121918622
MSV3drs121918622
GWAS Ctlgrs121918622
Max Magnitude0
OMIM182389
Desc
Variant0001
Relatedalso
OMIM607208
Desc
Variant
Relatedalso
ClinVar
Risk rs121918622(A,T;A,T)
Alt rs121918622(A,T;A,T)
Reference rs121918622(G;G)
Significance Pathogenic
Disease not provided Generalized epilepsy with febrile seizures plus Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN not provided Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166848842C>A; NC_000002.11:g.166848842C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000188988.1, RCV000013742.24, RCV000059521.1,


[PMID 20522430] Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.