BCKDHB, variants, traits, and what the research shows
Plain-English summary of the BCKDHB gene: 400 high-magnitude variants on file, 7 with published research summaries. Variants linked to rare_disease.
- High-magnitude variants on file
- 400
- With published research summary
- 7
- Trait themes
- 1
Traits this gene affects
- rare_disease
Top variants in BCKDHB
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 |
|---|---|---|
| rs1002472211 | 5.5 | rare_disease |
| rs1057516572 | 5.5 | rare_disease |
| rs1057516799 | 5.5 | rare_disease |
| rs1064796892 | 5.5 | rare_disease |
| rs1159943999 | 5.5 | rare_disease |
| rs121965005 | 5.5 | rare_disease |
| rs1235461740 | 5.5 | rare_disease |
| rs1248040495 | 5.5 | rare_disease |
| rs1328608014 | 5.5 | rare_disease |
| rs1380402024 | 5.5 | rare_disease |
| rs1400121541 | 5.5 | rare_disease |
| rs1402634815 | 5.5 | rare_disease |
| rs140373763 | 5.5 | rare_disease |
| rs142858149 | 5.5 | rare_disease |
| rs143427811 | 5.5 | kidney |
| rs1452496837 | 5.5 | rare_disease |
| rs147719822 | 5.5 | kidney |
| rs148582754 | 5.5 | rare_disease |
| rs148905512 | 5.5 | rare_disease |
| rs1554180622 | 5.5 | rare_disease |