| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1553195472 | 1.000 | 0.040 | 1 | 94098843 | missense variant | A/C | snv | 1 | |||
| rs751163782 | 0.882 | 0.040 | 4 | 13369888 | missense variant | A/C;G | snv | 4.0E-06; 1.2E-05 | 5 | ||
| rs1800728 | 0.807 | 0.080 | 1 | 94011395 | intron variant | A/G | snv | 2.3E-04 | 3.0E-04 | 8 | |
| rs1553348960 | 0.882 | 0.080 | 2 | 55870851 | missense variant | A/G | snv | 5 | |||
| rs61751392 | 0.827 | 0.080 | 1 | 94063250 | missense variant | A/G | snv | 1.5E-04 | 1.7E-04 | 5 | |
| rs104893967 | 0.827 | 0.080 | 6 | 42178374 | missense variant | A/G | snv | 3 | |||
| rs281865255 | 0.925 | 0.080 | 11 | 61959517 | missense variant | A/G | snv | 2 | |||
| rs398124615 | 0.827 | 0.080 | 1 | 197328844 | inframe insertion | AATTGATGG/-;AATTGATGGAATTGATGG | delins | 7.7E-04 | 5 | ||
| rs80338903 | 0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 | 25 | |
| rs771454167 | 0.827 | 0.240 | 12 | 88062772 | frameshift variant | C/- | del | 4.7E-05; 5.2E-06 | 2.1E-05 | 6 | |
| rs62645944 | 0.807 | 0.080 | 1 | 94098794 | splice region variant | C/A | snv | 8.8E-05 | 6.3E-05 | 6 | |
| rs1555961220 | 1.000 | 0.040 | X | 38285546 | missense variant | C/A | snv | 1 | |||
| rs61749455 | 0.882 | 0.080 | 1 | 94044692 | stop gained | C/A;G;T | snv | 5.6E-04; 4.0E-06 | 1 | ||
| rs1201356843 | 1.000 | 0.040 | 1 | 197477799 | missense variant | C/A;T | snv | 1 | |||
| rs753657349 | 0.925 | 0.080 | 6 | 42704568 | missense variant | C/A;T | snv | 2.0E-05 | 2.1E-05 | 1 | |
| rs868349465 | 0.851 | 0.080 | 6 | 64388718 | missense variant | C/A;T | snv | 2.7E-05; 1.4E-05; 6.9E-06 | 2.1E-05 | 1 | |
| rs875989778 | 0.882 | 0.040 | 4 | 13479429 | splice donor variant | C/G | snv | 5 | |||
| rs104893968 | 0.790 | 0.200 | 6 | 42173762 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-03 | 3 | ||
| rs62635654 | 0.851 | 0.080 | 1 | 197427615 | missense variant | C/G;T | snv | 4.0E-06; 7.6E-05 | 3 | ||
| rs62642564 | 0.925 | 0.040 | 1 | 94001068 | missense variant | C/G;T | snv | 1.5E-03 | 2 | ||
| rs1800553 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 7 | |
| rs61750641 | 0.790 | 0.080 | 1 | 94005499 | missense variant | C/T | snv | 3.5E-04 | 4.7E-04 | 7 | |
| rs777103184 | 0.827 | 0.040 | 2 | 29073071 | stop gained | C/T | snv | 8.0E-06 | 6 | ||
| rs61751263 | 0.882 | 0.080 | 1 | 94060760 | splice acceptor variant | C/T | snv | 4.2E-06 | 1.4E-05 | 3 | |
| rs61751402 | 0.882 | 0.080 | 1 | 94029515 | missense variant | C/T | snv | 6.3E-05 | 5.6E-05 | 3 |