| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs33972313 | 0.790 | 0.160 | 5 | 139379813 | missense variant | C/A;G;T | snv | 4.0E-06; 2.7E-02 | 8 | ||
| rs2228000 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 53 | |
| rs864309688 | 0.882 | 0.200 | 1 | 147908089 | missense variant | G/C | snv | 7.0E-06 | 3 | ||
| rs1050829 | 0.827 | 0.160 | X | 154535277 | missense variant | T/A;C | snv | 1.7E-04; 2.6E-02 | 5 | ||
| rs1050828 | 0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 | 15 | |
| rs1215029143 | 1.000 | 0.040 | X | 154558608 | missense variant | G/A;T | snv | 2 | |||
| rs7543472 | 1.000 | 0.040 | 1 | 16113897 | regulatory region variant | C/A;G;T | snv | 1 | |||
| rs11260867 | 1.000 | 0.040 | 1 | 16115233 | regulatory region variant | C/G | snv | 0.13 | 1 | ||
| rs139787163 | 0.925 | 0.120 | 1 | 16125271 | missense variant | C/T | snv | 4.8E-04 | 3.6E-04 | 2 | |
| rs3754334 | 0.925 | 0.040 | 1 | 16125272 | synonymous variant | G/A | snv | 0.28 | 0.24 | 2 | |
| rs1305547785 | 1.000 | 0.040 | 10 | 17229759 | missense variant | C/T | snv | 1 | |||
| rs1483130765 | 0.925 | 0.040 | 3 | 186538833 | stop gained | C/A | snv | 7.0E-06 | 2 | ||
| rs143507827 | 1.000 | 0.040 | 3 | 186539542 | missense variant | T/C | snv | 5.6E-04 | 2.0E-04 | 1 | |
| rs104893736 | 0.827 | 0.040 | 3 | 186539566 | missense variant | C/A | snv | 5 | |||
| rs398122937 | 0.882 | 0.040 | 13 | 20142862 | missense variant | C/T | snv | 3 | |||
| rs531379398 | 1.000 | 0.040 | 13 | 20143205 | synonymous variant | C/T | snv | 8.0E-04 | 1.2E-04 | 1 | |
| rs1114167307 | 0.851 | 0.200 | 13 | 20143233 | missense variant | G/A | snv | 4 | |||
| rs121909598 | 0.882 | 0.040 | 2 | 208121728 | stop gained | C/T | snv | 4.0E-06 | 3 | ||
| rs886055527 | 1.000 | 0.040 | 2 | 208121903 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs150857132 | 0.851 | 0.200 | 2 | 208124183 | missense variant | C/A;T | snv | 4.4E-04; 4.0E-06 | 4 | ||
| rs121909596 | 0.925 | 0.040 | 2 | 208124188 | missense variant | C/T | snv | 3 | |||
| rs1463326176 | 0.851 | 0.200 | 2 | 208124291 | frameshift variant | TGGG/- | del | 4 | |||
| rs28931605 | 0.807 | 0.200 | 2 | 208124294 | missense variant | G/A;T | snv | 4.2E-06; 1.3E-05 | 6 | ||
| rs121909595 | 0.925 | 0.040 | 2 | 208124321 | missense variant | G/A | snv | 3 | |||
| rs778768887 | 1.000 | 0.040 | 2 | 208124472 | start lost | A/G | snv | 1.7E-05 | 1 |