| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1189909394 | 11 | 64298178 | missense variant | G/A;C | snv | 7.0E-06 | 5 | ||||
| rs1554776954 | 1.000 | 9 | 127661133 | frameshift variant | A/- | delins | 5 | ||||
| rs397514452 | 1.000 | 10 | 74670258 | missense variant | C/A;T | snv | 8.0E-06; 4.0E-06 | 5 | |||
| rs1052954321 | 0.882 | 4 | 112427580 | missense variant | C/T | snv | 5 | ||||
| rs1057518786 | 1.000 | 6 | 33441374 | splice region variant | G/A | snv | 5 | ||||
| rs1553196096 | 1 | 22086463 | missense variant | G/A | snv | 5 | |||||
| rs751569508 | 1.000 | 17 | 16194473 | missense variant | G/A | snv | 2.5E-05 | 1.4E-05 | 5 | ||
| rs1256028809 | 1.000 | 18 | 70030114 | splice region variant | A/T | snv | 4.0E-06 | 5 | |||
| rs1135402758 | 1.000 | 9 | 131199023 | intron variant | T/- | delins | 5 | ||||
| rs377619533 | 1.000 | 18 | 33743312 | stop gained | C/A;T | snv | 2.8E-05 | 5 | |||
| rs1554411234 | 1.000 | 7 | 50463322 | missense variant | C/A | snv | 5 | ||||
| rs1557082399 | 1.000 | X | 77593803 | stop gained | C/T | snv | 4 | ||||
| rs864321692 | 0.925 | 10 | 28583498 | stop gained | C/A | snv | 4 | ||||
| rs1555902810 | 1.000 | 22 | 35781685 | frameshift variant | -/A | delins | 4 | ||||
| rs1247427997 | 1.000 | 1 | 165743244 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 4 | |||
| rs1554599036 | 1.000 | 8 | 60828698 | frameshift variant | GAACACTGTGGAAGAAC/- | del | 4 | ||||
| rs116128702 | 1.000 | 5 | 13923369 | stop gained | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 4 | |||
| rs797044884 | 0.925 | 17 | 59677123 | frameshift variant | -/GA | delins | 4 | ||||
| rs797044885 | 0.925 | 1 | 244055156 | missense variant | A/G | snv | 4 | ||||
| rs1555899177 | 1.000 | 21 | 33554005 | frameshift variant | ACTC/- | del | 4 | ||||
| rs1554698878 | 0.925 | 9 | 83971976 | stop gained | G/A | snv | 4 | ||||
| rs397509425 | 0.882 | 3 | 49722604 | missense variant | G/A | snv | 3.6E-05 | 1.4E-05 | 4 | ||
| rs1553631770 | 1.000 | 3 | 41233398 | missense variant | A/T | snv | 4 | ||||
| rs587777357 | 0.925 | 6 | 30724263 | missense variant | G/A | snv | 4 | ||||
| rs797044854 | 0.925 | 10 | 252459 | missense variant | C/A;T | snv | 4 |