| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057517825 | 0.925 | 22 | 23834143 | missense variant | G/A | snv | 4 | ||||
| rs1057519430 | 0.925 | X | 41346946 | missense variant | C/T | snv | 5 | ||||
| rs116128702 | 1.000 | 5 | 13923369 | stop gained | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 4 | |||
| rs1247427997 | 1.000 | 1 | 165743244 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 4 | |||
| rs1304422857 | 1.000 | 12 | 109511304 | splice donor variant | G/A;T | snv | 3 | ||||
| rs1314314373 | 1.000 | 14 | 99176115 | stop gained | G/A;C | snv | 4.1E-06 | 4 | |||
| rs1350201776 | 20 | 45952244 | missense variant | C/T | snv | 4.0E-06 | 3 | ||||
| rs137852217 | 0.925 | 0.040 | X | 64192215 | stop gained | G/A;T | snv | 1.6E-05 | 4 | ||
| rs137854562 | 0.925 | 0.120 | 17 | 31235623 | stop gained | C/T | snv | 4 | |||
| rs1429181351 | 0.925 | 0.160 | 12 | 101764957 | frameshift variant | TA/- | del | 4.0E-06 | 4 | ||
| rs147001633 | 0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 | 15 | ||
| rs147334255 | 1.000 | 22 | 27750995 | stop gained | G/A | snv | 3 | ||||
| rs1553153365 | 1 | 23310702 | stop gained | G/A | snv | 2 | |||||
| rs1553212626 | 1.000 | 1 | 151406151 | frameshift variant | -/A | delins | 3 | ||||
| rs1553212978 | 1.000 | 1 | 151406322 | frameshift variant | -/T | delins | 3 | ||||
| rs1553249737 | 1.000 | 1 | 165743263 | stop gained | G/T | snv | 4 | ||||
| rs1553353206 | 1.000 | 1 | 224398525 | frameshift variant | CATTTAACAA/- | delins | 3 | ||||
| rs1553479405 | 1.000 | 2 | 120989603 | frameshift variant | C/- | del | 3 | ||||
| rs1553521389 | 1.000 | 2 | 224503679 | frameshift variant | AG/- | delins | 3 | ||||
| rs1553631770 | 1.000 | 3 | 41233398 | missense variant | A/T | snv | 4 | ||||
| rs1554109707 | 1.000 | 5 | 180613051 | missense variant | C/G;T | snv | 3 | ||||
| rs1554117456 | 1.000 | 5 | 37245569 | stop gained | C/A | snv | 3 | ||||
| rs1554121353 | 6 | 33438527 | frameshift variant | A/- | del | 2 | |||||
| rs1554139771 | 5 | 88804732 | stop gained | CA/- | delins | 3 | |||||
| rs1554200990 | 1.000 | 6 | 121446960 | missense variant | G/C | snv | 4 |