| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1267314028 | 1.000 | 0.120 | 16 | 28486388 | synonymous variant | G/A | snv | 1 | |||
| rs1555273604 | 1.000 | 0.120 | 13 | 76992207 | frameshift variant | -/ATCCGGGCTGG | delins | 1 | |||
| rs1555273881 | 1.000 | 0.120 | 13 | 76995075 | frameshift variant | C/- | delins | 1 | |||
| rs1564855860 | 1.000 | 0.120 | 11 | 6617769 | stop gained | G/C | snv | 1 | |||
| rs794729218 | 1.000 | 0.120 | 13 | 76995933 | frameshift variant | G/- | del | 1 | |||
| rs398122959 | 0.925 | 0.120 | 11 | 6615199 | missense variant | A/C | snv | 4.0E-06 | 1.4E-05 | 2 | |
| rs202189057 | 0.925 | 0.120 | 11 | 6617695 | stop gained | A/T | snv | 4.0E-06 | 2 | ||
| rs765380155 | 0.925 | 0.120 | 11 | 6616374 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 2 | |
| rs386833634 | 0.925 | 0.120 | 1 | 40092462 | frameshift variant | -/T | delins | 3.2E-05; 4.0E-06; 4.0E-06 | 1.4E-05 | 2 | |
| rs386833659 | 0.925 | 0.120 | 1 | 40078659 | splice acceptor variant | C/A;T | snv | 4.0E-06 | 2 | ||
| rs750428882 | 1.000 | 0.120 | 11 | 6616375 | missense variant | G/A;C | snv | 4.0E-06 | 2 | ||
| rs104894483 | 0.925 | 0.120 | 15 | 68214373 | stop gained | C/A;G;T | snv | 6.8E-05; 2.6E-03; 2.0E-05; 4.0E-06 | 3 | ||
| rs759080581 | 1.000 | 0.120 | 11 | 6618809 | stop gained | G/A;T | snv | 1.2E-05; 4.0E-06 | 1 | ||
| rs587779411 | 0.851 | 0.160 | 8 | 1780498 | missense variant | C/G;T | snv | 4.0E-06 | 5 | ||
| rs386833720 | 0.925 | 0.120 | 16 | 28487492 | frameshift variant | C/- | delins | 4.0E-06 | 7.0E-06 | 2 | |
| rs746085696 | 1.000 | 0.120 | 11 | 6619191 | splice region variant | C/G;T | snv | 4.0E-06 | 1 | ||
| rs121908209 | 0.925 | 0.120 | 11 | 6617045 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
| rs762896453 | 1.000 | 0.120 | 16 | 28482353 | synonymous variant | G/A | snv | 4.0E-06 | 1 | ||
| rs386833740 | 0.925 | 0.120 | 16 | 28482344 | frameshift variant | -/T | delins | 3.2E-05; 4.0E-06 | 2 | ||
| rs796052407 | 1.000 | 0.120 | 11 | 1759569 | missense variant | G/A | snv | 4.0E-06 | 4.2E-05 | 1 | |
| rs140948465 | 0.925 | 0.120 | 4 | 127930800 | missense variant | G/A;T | snv | 4.0E-06; 8.0E-06 | 2 | ||
| rs386833694 | 0.925 | 0.120 | 16 | 28482161 | missense variant | G/A;T | snv | 4.0E-06 | 2 | ||
| rs267606737 | 0.882 | 0.120 | 16 | 28486427 | stop gained | G/T | snv | 4.0E-06 | 3 | ||
| rs119455957 | 0.882 | 0.120 | 11 | 6616696 | missense variant | C/A | snv | 8.0E-06 | 7.0E-06 | 3 | |
| rs154774640 | 0.925 | 0.120 | 15 | 68218584 | stop gained | G/C | snv | 8.0E-06 | 2.1E-05 | 2 |