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rs121909346

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121909346(A;C)
Make rs121909346(C;C)
ReferenceGRCh38 38.1/141
Chromosome21
Position43774287
GeneCSTB
is asnp
is mentioned by
dbSNPrs121909346
ebirs121909346
HLIrs121909346
Exacrs121909346
Varsomers121909346
Maprs121909346
PheGenIrs121909346
hapmaprs121909346
1000 genomesrs121909346
hgdprs121909346
ensemblrs121909346
gopubmedrs121909346
geneviewrs121909346
scholarrs121909346
googlers121909346
pharmgkbrs121909346
gwascentralrs121909346
openSNPrs121909346
23andMers121909346
23andMe allrs121909346
SNP Nexus

SNPshotrs121909346
SNPdbers121909346
MSV3drs121909346
GWAS Ctlgrs121909346
Max Magnitude0
OMIM601145
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121909346(C;C)
Alt rs121909346(C;C)
Reference rs121909346(A;A)
Significance Pathogenic
Disease Unverricht-Lundborg syndrome
Variation info
Gene CSTB
CLNDBN Unverricht-Lundborg syndrome
Reversed 1
HGVS NC_000021.8:g.45194168T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008908.4,