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rs80356539

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in complete genomics
(GA;GA) 0 common in clinvar
Make rs80356539(-;-)
Make rs80356539(-;AG)
ReferenceGRCh38 38.1/141
Chromosome15
Position42777155
GeneTTBK2
is asnp
is mentioned by
dbSNPrs80356539
ebirs80356539
HLIrs80356539
Exacrs80356539
Varsomers80356539
Maprs80356539
PheGenIrs80356539
hapmaprs80356539
1000 genomesrs80356539
hgdprs80356539
ensemblrs80356539
gopubmedrs80356539
geneviewrs80356539
scholarrs80356539
googlers80356539
pharmgkbrs80356539
gwascentralrs80356539
openSNPrs80356539
23andMers80356539
23andMe allrs80356539
SNP Nexus

SNPshotrs80356539
SNPdbers80356539
MSV3drs80356539
GWAS Ctlgrs80356539
Max Magnitude0
OMIM611695
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80356539(;)
Alt rs80356539(;)
Reference rs80356539(GA;GA)
Significance Pathogenic
Disease Spinocerebellar ataxia 11
Variation info
Gene TTBK2
CLNDBN Spinocerebellar ataxia 11
Reversed 1
HGVS NC_000015.9:g.43069353_43069354delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000000896.2,


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