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.
14 loci
| View | AFF2 | FRAXE | Fragile X syndrome, FRAXE type | chrX:148500604-148500753 | XR | ||
| View | AR | SBMA | Spinal and bulbar muscular atrophy, Kennedy Disease | chrX:67545316-67545419 | XR | ||
| View | ATXN1 | SCA1 | Spinocerebellar ataxia type 1 | chr6:16327633-16327724 | AD | ||
| View | ATXN10 | SCA10 | Spinocerebellar ataxia type 10 | chr22:45795354-45795424 | AD | ||
| View | ATXN2 | SCA2 | Spinocerebellar ataxia type 2 | chr12:111598949-111599019 | AD/AR | ||
| View | ATXN7 | SCA7 | Spinocerebellar ataxia type 7 | chr3:63912684-63912715 | AD | ||
| View | CACNA1A | SCA6 | Spinocerebellar ataxia type 6 | chr19:13207858-13207898 | 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 | HTT | HD | Huntington disease | chr4:3074876-3074933 | AD | ||
| View | JPH3 | HDL2 | Huntington disease-like 2 | chr16:87604282-87604329 | AD | ||
| View | PPP2R2B | SCA12 | Spinocerebellar ataxia type 12 | chr5:146878727-146878759 | AD | ||
| View | TBP | SCA17 | Spinocerebellar ataxia type 17 | chr6:170561906-170562017 | AD | ||
| View | TCF4 | FECD3 | Fuchs endothelial corneal dystrophy 3 | chr18:55586153-55586229 | AD |
14 rows
Plots
High-level, visual overview of loci.