PNPT1, variants, traits, and what the research shows
Plain-English summary of the PNPT1 gene: 369 high-magnitude variants on file, 2 with published research summaries. Variants linked to hearing, rare_disease.
- High-magnitude variants on file
- 369
- With published research summary
- 2
- Trait themes
- 2
Traits this gene affects
- hearing
- rare_disease
Top variants in PNPT1
Highest-impact rsids on file, sorted by magnitude. Linked entries have a full research summary; unlinked entries are in the catalog but not yet written up.
| rsid | Magnitude | Primary trait |
|---|---|---|
| rs1049082567 | 5.5 | hearing |
| rs1064793593 | 5.5 | rare_disease |
| rs1221723818 | 5.5 | rare_disease |
| rs1288276942 | 5.5 | rare_disease |
| rs1400164853 | 5.5 | rare_disease |
| rs142840568 | 5.5 | rare_disease |
| rs143022417 | 5.5 | rare_disease |
| rs146571352 | 5.5 | hearing |
| rs147375807 | 5.5 | rare_disease |
| rs1478363532 | 5.5 | hearing |
| rs1485838680 | 5.5 | rare_disease |
| rs151166046 | 5.5 | neurological |
| rs1559094461 | 5.5 | rare_disease |
| rs1559114055 | 5.5 | rare_disease |
| rs1572796197 | 5.5 | hearing |
| rs1696930196 | 5.5 | hearing |
| rs199712282 | 5.5 | hearing |
| rs200088200 | 5.5 | rare_disease |
| rs202190573 | 5.5 | hearing |
| rs2104026165 | 5.5 | neurological |