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.
12 loci
| View | ATXN1 | SCA1 | Spinocerebellar ataxia type 1 | chr6:16327633-16327724 | AD | ||
| View | ATXN8OS | SCA8 | Spinocerebellar ataxia type 8 | chr13:70139383-70139429 | AD | ||
| View | BEAN1 | SCA31 | Spinocerebellar ataxia type 31 | chr16:66490396-66490466 | AD | ||
| View | DAB1 | SCA37 | Spinocerebellar ataxia type 37 | chr1:57367043-57367121 | AD | ||
| View | DMPK | DM1 | Myotonic dystrophy type 1 | chr19:45770204-45770266 | AD | ||
| View | FXN | FRDA | Friedreich ataxia | chr9:69037286-69037304 | AR | ||
| View | HTT | HD | Huntington disease | chr4:3074876-3074933 | AD | ||
| View | MARCHF6 | FAME3 | Familial adult myoclonic epilepsy type 3 | chr5:10356343-10356411 | AD | ||
| View | NOTCH2NLC | NIID | Neuronal intranuclear inclusion disease, Alzheimer disease and parkinsonism phenotype, Oculopharyngodistal myopathy (OPDM) type 3 | chr1:149390802-149390842 | AD | ||
| View | RAI1 | FAME8 | Familial adult myoclonic epilepsy type 8 | chr17:17808358-17808460 | AD | ||
| View | SAMD12 | FAME1 | Familial adult myoclonic epilepsy type 1 | chr8:118366812-118366918 | AD | ||
| View | THAP11 | SCA | Spinocerebellar ataxia | chr16:67842862-67842950 | AD |
12 rows
Plots
High-level, visual overview of loci.