rs80356538
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (ACG;ACG) | 0 | common in clinvar |
| Make rs80356538(-;A) |
| Make rs80356538(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 42777110 |
| Gene | TTBK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356538 |
| dbSNP (classic) | rs80356538 |
| ClinGen | rs80356538 |
| ebi | rs80356538 |
| HLI | rs80356538 |
| Exac | rs80356538 |
| Gnomad | rs80356538 |
| Varsome | rs80356538 |
| LitVar | rs80356538 |
| Map | rs80356538 |
| PheGenI | rs80356538 |
| Biobank | rs80356538 |
| 1000 genomes | rs80356538 |
| hgdp | rs80356538 |
| ensembl | rs80356538 |
| geneview | rs80356538 |
| scholar | rs80356538 |
| rs80356538 | |
| pharmgkb | rs80356538 |
| gwascentral | rs80356538 |
| openSNP | rs80356538 |
| 23andMe | rs80356538 |
| SNPshot | rs80356538 |
| SNPdbe | rs80356538 |
| MSV3d | rs80356538 |
| GWAS Ctlg | rs80356538 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356538(A;A) |
| Alt | rs80356538(A;A) |
| Reference | Rs80356538(-;-) |
| 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.
