Disease | Significant outlier | Evidence of a short allele | Proportion significant outlier | STRling est. > pathogenic threshold | Inheritance | Notes |
---|---|---|---|---|---|---|
CANVAS | 12 | 12 | 0.0462 | 0 | AR | 0.7% carrier frequency [10] |
DBQD2 | 5 | 5a | 0.0192 | 0 | AR | |
DM2 | 7 | 7 | 0.0269 | 0 | AD | Age onset: ~30–40 |
FRA12A | 57 | 57 | 0.219 | 0 | AD | |
FRAXE | 7 | 7 | 0.0269 | 0 | XR | |
FRDA | 61 | 61 | 0.235 | 1 | AR | Age onset: 5–25 |
FTDALS1 | 33 | 32 (1a) | 0.127 | 0 | AD | Age onset: 27–85 |
FXS | 0 | N/A | 0 | 0 | XD | Multiple syndromes with varying pathogenic size thresholds and age of onset: FXS 2, FXTAS 60–65, POI? |
SCA10 | 8 | 8 | 0.0308 | 0 | AD | Age onset: 12–48 |
SCA8 | 14 | 14 | 0.0538 | 1 | AD | Age onset: 1–73 |