Loci
Downloads
Full DatasetTRGT definitions for genotyping in PacBio HiFi reads:
hg19 hg38 T2T-chm13
Extended BED format for filtering genomic data:
hg19 hg38 T2T-chm13
Table
Full table of tandem repeat loci associated with Mendelian diseases.
10 loci
| View | AFF2 | FRAXE | Fragile X syndrome, FRAXE type | chrX:148500604-148500753 | XR | ||
| View | ATXN2 | SCA2 | Spinocerebellar ataxia type 2 | chr12:111598949-111599019 | AD/AR | ||
| View | ATXN3 | SCA3, MJD | Spinocerebellar ataxia type 3/Machado-Joseph disease | chr14:92071010-92071052 | AD | ||
| View | ATXN8OS | SCA8 | Spinocerebellar ataxia type 8 | chr13:70139383-70139429 | AD | ||
| View | DAB1 | SCA37 | Spinocerebellar ataxia type 37 | chr1:57367043-57367121 | AD | ||
| View | DMPK | DM1 | Myotonic dystrophy type 1 | chr19:45770204-45770266 | AD | ||
| View | FGF14 | SCA27B | Spinocerebellar ataxia 27B | chr13:102161574-102161726 | AD | ||
| View | FMR1 | FXS, FXTAS, POF1 | Fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency FXPOI/POF1 | chrX:147912049-147912111 | XD | ||
| View | FXN | FRDA | Friedreich ataxia | chr9:69037286-69037304 | AR | ||
| View | SAMD12 | FAME1 | Familial adult myoclonic epilepsy type 1 | chr8:118366812-118366918 | AD |
10 rows
Plots
High-level, visual overview of loci.