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rs80356538

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(ACG;ACG) 0 common in clinvar
Make rs80356538(-;-)
Make rs80356538(-;A)
Make rs80356538(A;A)
ReferenceGRCh38 38.1/141
Chromosome15
Position42777110
GeneTTBK2
is asnp
is mentioned by
dbSNPrs80356538
ebirs80356538
HLIrs80356538
Exacrs80356538
Varsomers80356538
Maprs80356538
PheGenIrs80356538
hapmaprs80356538
1000 genomesrs80356538
hgdprs80356538
ensemblrs80356538
gopubmedrs80356538
geneviewrs80356538
scholarrs80356538
googlers80356538
pharmgkbrs80356538
gwascentralrs80356538
openSNPrs80356538
23andMers80356538
23andMe allrs80356538
SNP Nexus

SNPshotrs80356538
SNPdbers80356538
MSV3drs80356538
GWAS Ctlgrs80356538
Max Magnitude0
OMIM611695
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80356538(A;A)
Alt rs80356538(A;A)
Reference rs80356538(ACG;ACG)
Significance Pathogenic
Disease Spinocerebellar ataxia 11
Variation info
Gene TTBK2
CLNDBN Spinocerebellar ataxia 11
Reversed 1
HGVS NC_000015.9:g.43069309dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000000895.2,


[PMID 18037885] Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.