| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057524237 | 0.851 | 0.280 | 1 | 102915626 | splice region variant | C/T | snv | 7 | |||
| rs869312821 | 0.882 | 0.120 | 1 | 1806515 | missense variant | T/C | snv | 7 | |||
| rs878853161 | 0.851 | 0.240 | 1 | 42929977 | frameshift variant | AT/- | del | 7 | |||
| rs1130183 | 0.827 | 0.160 | 1 | 160041722 | missense variant | G/A | snv | 4.6E-02 | 4.7E-02 | 6 | |
| rs375761808 | 0.925 | 0.160 | 1 | 26775673 | missense variant | A/G;T | snv | 4.0E-06 | 6 | ||
| rs869312826 | 0.882 | 0.080 | 1 | 1787378 | missense variant | C/T | snv | 6 | |||
| rs878853325 | 0.851 | 0.240 | 1 | 40089414 | frameshift variant | C/- | delins | 6 | |||
| rs1057518821 | 1.000 | 1 | 42930671 | frameshift variant | -/C | delins | 5 | ||||
| rs869312671 | 0.882 | 0.160 | 1 | 11144735 | missense variant | C/T | snv | 5 | |||
| rs878853324 | 0.882 | 0.160 | 1 | 40078579 | missense variant | A/T | snv | 5 | |||
| rs758432471 | 0.925 | 1 | 1806513 | missense variant | C/T | snv | 7.0E-06 | 4 | |||
| rs786204473 | 0.925 | 0.080 | 1 | 21573673 | missense variant | G/A | snv | 4 | |||
| rs869312666 | 0.925 | 0.160 | 1 | 11129789 | missense variant | A/C | snv | 4 | |||
| rs878853322 | 0.925 | 0.160 | 1 | 40078573 | missense variant | G/A | snv | 4 | |||
| rs878853323 | 0.882 | 0.160 | 1 | 40092499 | missense variant | A/G | snv | 4 | |||
| rs1135401733 | 1.000 | 0.040 | 1 | 244856757 | stop gained | G/A | snv | 3 | |||
| rs150594290 | 1.000 | 0.080 | 1 | 21575894 | missense variant | G/A | snv | 3 | |||
| rs730882243 | 1.000 | 0.120 | 1 | 215602099 | frameshift variant | CCCTTGCGAATGAAAGATAATGATCTTCTTGTAACTGA/- | del | 3 | |||
| rs794727870 | 0.925 | 0.160 | 1 | 42929244 | missense variant | G/A;T | snv | 3 | |||
| rs886041300 | 1.000 | 0.160 | 1 | 210920032 | missense variant | C/T | snv | 3 | |||
| rs115466046 | 1 | 160042480 | missense variant | C/T | snv | 1.2E-02 | 1.1E-02 | 2 | |||
| rs140646329 | 1 | 160042283 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 2 | |||
| rs764618040 | 1.000 | 0.040 | 1 | 119726868 | missense variant | C/T | snv | 1.6E-05 | 2.1E-05 | 2 | |
| rs886041874 | 1.000 | 0.040 | 1 | 119721323 | splice donor variant | T/C | snv | 4.0E-06 | 2 | ||
| rs746487237 | 1 | 183208049 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 1 |