RPUSD1
RNA pseudouridine synthase domain containing 1
Summary
Predicted to enable pseudouridine synthase activity. Predicted to be involved in enzyme-directed rRNA pseudouridine synthesis. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs537790989 | 16:835,960 | G/A | — | uncertain significance |
| rs757264370 | 16:835,973 | A/G | — | uncertain significance |
| rs1472104344 | 16:836,029 | G/A | — | uncertain significance |
| rs759669679 | 16:836,030 | T/C | — | uncertain significance |
| rs763955926 | 16:836,047 | C/T | — | uncertain significance |
| rs1282405747 | 16:836,051 | C/A | — | uncertain significance |
| rs148500888 | 16:836,116 | G/A | — | uncertain significance |
| rs61746673 | 16:836,119 | G/T | — | uncertain significance |
| rs368540149 | 16:836,120 | T/A | — | uncertain significance |
| rs187510850 | 16:836,139 | G/C | — | likely benign |
| rs147626249 | 16:836,152 | G/A | — | uncertain significance |
| rs140830409 | 16:836,153 | A/G | — | likely benign |
| rs1017523395 | 16:836,195 | G/A | — | uncertain significance |
| rs763655493 | 16:836,204 | G/A | — | uncertain significance |
| rs758024012 | 16:836,212 | G/A | — | uncertain significance |
| rs773438546 | 16:836,231 | C/T | — | uncertain significance |
| rs376986455 | 16:836,263 | T/C | — | uncertain significance |
| rs140945764 | 16:836,272 | A/G | — | uncertain significance |
| rs780902067 | 16:836,293 | C/T | — | likely benign |
| rs1413042686 | 16:836,309 | C/T | — | uncertain significance |
| rs757434302 | 16:836,341 | A/G | — | uncertain significance |
| rs1416441008 | 16:836,359 | C/T | — | uncertain significance |
| rs193920771 | 16:836,368 | T/C | — | uncertain significance |
| rs59913282 | 16:836,420 | C/T | upstream gene variant | — |
| rs2544279179 | 16:836,850 | T/C | — | uncertain significance |
| rs776406455 | 16:836,905 | G/C | — | uncertain significance |
| rs762631255 | 16:836,910 | G/A | — | uncertain significance |
| rs767804092 | 16:837,113 | C/T | — | uncertain significance |
| rs749222760 | 16:837,122 | T/C | — | likely benign |
| rs1448936759 | 16:837,142 | C/G | — | uncertain significance |
| rs577334911 | 16:837,170 | G/A | — | uncertain significance |
| rs763656788 | 16:837,178 | A/G | — | uncertain significance |
| rs147488694 | 16:837,376 | A/G | — | uncertain significance |
| rs766957011 | 16:837,382 | C/T | — | uncertain significance |
| rs199529893 | 16:837,413 | C/T | — | uncertain significance |
| rs935125578 | 16:837,563 | C/G | — | uncertain significance |
| rs536733840 | 16:837,604 | C/T | — | uncertain significance |
| rs377514747 | 16:837,628 | G/C | — | uncertain significance |
| rs779675430 | 16:837,635 | G/A | — | uncertain significance |
| rs199929908 | 16:837,655 | C/T | — | uncertain significance |
| rs767358142 | 16:837,673 | T/C | — | uncertain significance |
| rs201352829 | 16:837,697 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.