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.
11 loci
| View | AR | SBMA | Spinal and bulbar muscular atrophy, Kennedy Disease | chrX:67545316-67545419 | XR | ||
| View | ATN1 | DRPLA | Dentatorubral-Pallidoluysian Atrophy | chr12:6936716-6936775 | AD | ||
| 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 | ATXN3 | SCA3, MJD | Spinocerebellar Ataxia Type 3/Machado-Joseph Disease | chr14:92071010-92071052 | AD | ||
| View | ATXN7 | SCA7 | Spinocerebellar Ataxia Type 7 | chr3:63912684-63912715 | AD | ||
| View | DAB1 | SCA37 | Spinocerebellar Ataxia Type 37 | chr1:57367043-57367121 | AD | ||
| View | HTT | HD | Huntington disease | chr4:3074876-3074933 | AD | ||
| View | NOTCH2NLC | NIID | Neuronal intranuclear inclusion disease, Alzheimer disease and parkinsonism phenotype | chr1:149390802-149390842 | AD | ||
| View | TBP | SCA17 | Spinocerebellar ataxia type 17 | chr6:170561906-170562017 | AD |
11 rows
Plots
High-level, visual overview of loci.