| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
| rs267607911 | 0.851 | 0.200 | 2 | 47403192 | start lost | A/C;G;T | snv | 5.1E-05; 1.4E-05 | 8 | ||
| rs904571820 | 0.851 | 0.160 | 6 | 151842664 | start lost | A/G | snv | 4.0E-06 | 5 | ||
| rs3020450 | 0.807 | 0.200 | 14 | 64301584 | splice region variant | C/A;T | snv | 10 | |||
| rs398123318 | 0.776 | 0.240 | 10 | 87925558 | splice region variant | AGTA/- | delins | 9 | |||
| rs7953249 | 0.882 | 0.160 | 12 | 120965921 | splice region variant | G/A | snv | 0.59 | 4 | ||
| rs876660702 | 0.851 | 0.160 | 17 | 43063333 | splice region variant | C/T | snv | 4 | |||
| rs7526063 | 0.882 | 0.120 | 1 | 236808698 | splice region variant | C/T | snv | 3.8E-02 | 5.6E-02 | 3 | |
| rs876659463 | 1.000 | 0.120 | 16 | 23621357 | splice region variant | C/G | snv | 7.0E-06 | 2 | ||
| rs1555526466 | 1.000 | 0.120 | 17 | 7675989 | splice region variant | C/A;G;T | snv | 1 | |||
| rs1567224146 | 1.000 | 0.120 | 16 | 23638070 | splice region variant | C/T | snv | 1 | |||
| rs763746485 | 1.000 | 0.120 | 17 | 7674974 | splice region variant | A/C | snv | 1 | |||
| rs81002836 | 0.851 | 0.200 | 13 | 32362521 | splice acceptor variant | A/G;T | snv | 5 | |||
| rs1057517809 | 0.882 | 0.160 | 10 | 87965286 | splice acceptor variant | G/A;C | snv | 4 | |||
| rs1555603638 | 0.882 | 0.280 | 17 | 61784425 | splice acceptor variant | C/T | snv | 4 | |||
| rs273901746 | 0.882 | 0.200 | 17 | 43063375 | splice acceptor variant | T/- | del | 4 | |||
| rs587780259 | 0.882 | 0.120 | 17 | 58709857 | splice acceptor variant | A/C;G | snv | 2.0E-05 | 2.1E-05 | 4 | |
| rs786203700 | 0.882 | 0.280 | 17 | 61857233 | splice acceptor variant | T/C | snv | 4.0E-06 | 7.0E-06 | 4 | |
| rs1555525367 | 0.925 | 0.200 | 17 | 7673838 | splice acceptor variant | C/A;T | snv | 3 | |||
| rs397516439 | 0.925 | 0.200 | 17 | 7673610 | splice acceptor variant | T/C | snv | 8.0E-06 | 3 | ||
| rs587781702 | 0.925 | 0.200 | 17 | 7673609 | splice acceptor variant | C/A;G;T | snv | 3 | |||
| rs786202799 | 0.925 | 0.200 | 17 | 7675238 | splice acceptor variant | T/A;C;G | snv | 4.0E-06 | 3 | ||
| rs80358126 | 0.882 | 0.200 | 17 | 43049195 | splice acceptor variant | C/A;G;T | snv | 3 | |||
| rs864622277 | 0.925 | 0.240 | 17 | 61847221 | splice acceptor variant | C/G | snv | 3 | |||
| rs868137297 | 0.925 | 0.200 | 17 | 7675237 | splice acceptor variant | C/T | snv | 7.0E-06 | 3 |