| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs878853357 | 3 | 101228876 | stop gained | C/A | snv | 1.6E-05 | 1.4E-05 | 1 | |||
| rs878853358 | 3 | 101243918 | frameshift variant | AC/- | delins | 1 | |||||
| rs758291149 | 3 | 101244651 | stop gained | A/G;T | snv | 2.4E-05 | 2.1E-05 | 2 | |||
| rs768660614 | 3 | 101320304 | frameshift variant | -/T | delins | 4.0E-06 | 1 | ||||
| rs1556297584 | X | 107628675 | missense variant | C/T | snv | 1 | |||||
| rs1556300610 | X | 107645232 | missense variant | C/T | snv | 1 | |||||
| rs1556300621 | X | 107645286 | missense variant | C/T | snv | 2 | |||||
| rs867288458 | X | 107645287 | missense variant | G/A;C | snv | 2 | |||||
| rs201422368 | 1.000 | 0.040 | 1 | 111120539 | stop gained | C/T | snv | 3.6E-05 | 3.5E-05 | 2 | |
| rs786205664 | 1.000 | 0.040 | 1 | 111120671 | missense variant | T/A | snv | 2 | |||
| rs786205663 | 1 | 111124856 | inframe deletion | CGAACATAA/- | delins | 1 | |||||
| rs746559651 | 1.000 | 0.040 | 1 | 111126286 | frameshift variant | C/- | delins | 1.2E-05 | 7.1E-06 | 2 | |
| rs786205665 | 1.000 | 0.040 | 1 | 111131424 | missense variant | C/T | snv | 7.0E-06 | 2 | ||
| rs786205662 | 1.000 | 0.040 | 1 | 111131476 | missense variant | A/G | snv | 1 | |||
| rs786205661 | 1.000 | 0.040 | 1 | 111131489 | inframe deletion | CAG/- | delins | 2 | |||
| rs878853355 | 2 | 111968225 | frameshift variant | CTC/TT | delins | 1 | |||||
| rs1052954321 | 0.882 | 4 | 112427580 | missense variant | C/T | snv | 5 | ||||
| rs906525288 | 11 | 119339494 | missense variant | G/A;C | snv | 1 | |||||
| rs1555036138 | 11 | 119339507 | missense variant | G/A | snv | 1 | |||||
| rs1555037395 | 11 | 119344335 | stop gained | G/A | snv | 1 | |||||
| rs767295178 | 3 | 121770503 | frameshift variant | -/TGCCACA | delins | 2.4E-05 | 7.0E-06 | 1 | |||
| rs121918244 | 0.882 | 0.200 | 3 | 121781772 | stop gained | G/A | snv | 6.8E-05 | 1.1E-04 | 4 | |
| rs1553711564 | 3 | 121788283 | splice donor variant | C/T | snv | 1 | |||||
| rs1189889920 | 3 | 121790208 | stop gained | G/A | snv | 7.0E-06 | 1 | ||||
| rs878853352 | 4 | 121828692 | stop gained | AG/TCT | delins | 1 |