| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1420672586 | 1.000 | 0.040 | 1 | 68431282 | missense variant | C/A | snv | 1.2E-05 | 2.1E-05 | 1 | |
| rs781781440 | 0.925 | 0.040 | 10 | 84200685 | frameshift variant | -/A | delins | 8.4E-06; 4.2E-06 | 2.1E-05 | 2 | |
| rs119489105 | 0.925 | 0.040 | 2 | 112008466 | stop gained | C/T | snv | 5.6E-05 | 1.4E-05 | 1 | |
| rs114342808 | 0.882 | 0.080 | 1 | 197421404 | stop gained | C/T | snv | 3.2E-05 | 1.4E-05 | 3 | |
| rs574462207 | 1.000 | 0.040 | 14 | 21302561 | synonymous variant | A/G | snv | 4.8E-06 | 1.4E-05 | 1 | |
| rs61751279 | 0.882 | 0.080 | 1 | 68446862 | splice acceptor variant | T/A | snv | 2.0E-05 | 1.4E-05 | 3 | |
| rs727503855 | 0.807 | 0.240 | 12 | 88118528 | frameshift variant | TT/-;T;TTT | delins | 7.1E-06 | 6 | ||
| rs75895925 | 0.925 | 0.080 | 14 | 88437565 | stop gained | C/T | snv | 4.8E-05 | 7.0E-06 | 2 | |
| rs61749670 | 0.882 | 0.080 | 17 | 8003434 | frameshift variant | C/- | delins | 1.7E-05 | 7.0E-06 | 3 | |
| rs62636271 | 0.882 | 0.080 | 1 | 197427880 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 3 | |
| rs775978677 | 1.000 | 0.040 | 1 | 9982521 | frameshift variant | -/A | delins | 4.0E-06 | 7.0E-06 | 1 | |
| rs750889782 | 0.925 | 0.040 | 17 | 8013919 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 2 | |
| rs61750168 | 0.851 | 0.080 | 17 | 8013918 | missense variant | C/G;T | snv | 4.0E-06; 1.5E-04 | 4 | ||
| rs758593134 | 0.851 | 0.200 | 12 | 88140955 | splice donor variant | C/T | snv | 4.6E-06 | 4 | ||
| rs281865175 | 0.882 | 0.080 | 1 | 197477775 | frameshift variant | CAACTCAGGG/- | delins | 3 | |||
| rs387907009 | 0.882 | 0.200 | 3 | 121790166 | stop gained | C/A | snv | 1.2E-05 | 3 | ||
| rs61749423 | 0.925 | 0.040 | 1 | 94060656 | stop gained | G/A;T | snv | 8.0E-06; 4.4E-05 | 3 | ||
| rs61751404 | 0.882 | 0.080 | 1 | 94021340 | missense variant | G/A;C | snv | 3.2E-05; 4.0E-06 | 3 | ||
| rs62642583 | 0.882 | 0.080 | 1 | 68444818 | frameshift variant | AAATTCTGTTATGACGATCC/- | delins | 3 | |||
| rs62645752 | 0.882 | 0.080 | 1 | 197328961 | frameshift variant | ATAGGAA/- | delins | 3 | |||
| rs759940113 | 0.882 | 0.080 | 14 | 21325903 | stop gained | C/A;T | snv | 8.0E-06 | 3 | ||
| rs866395428 | 1.000 | 0.040 | 6 | 79493633 | stop gained | G/A | snv | 3 | |||
| rs104894474 | 0.882 | 0.080 | 14 | 67726086 | stop gained | G/T | snv | 2 | |||
| rs121917744 | 0.851 | 0.080 | 1 | 68438228 | missense variant | G/A;T | snv | 1.6E-05 | 2 | ||
| rs137853124 | 0.925 | 0.040 | 14 | 21294785 | stop gained | G/A | snv | 2 |