| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs63751177 | 1.000 | 0.120 | 17 | 44351438 | stop gained | G/A | snv | 2 | |||
| rs750428882 | 1.000 | 0.120 | 11 | 6616375 | missense variant | G/A;C | snv | 4.0E-06 | 2 | ||
| rs1060502179 | 1.000 | 0.120 | 11 | 6618823 | missense variant | A/C | snv | 7.0E-06 | 1 | ||
| 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 | |||
| rs746085696 | 1.000 | 0.120 | 11 | 6619191 | splice region variant | C/G;T | snv | 4.0E-06 | 1 | ||
| rs759080581 | 1.000 | 0.120 | 11 | 6618809 | stop gained | G/A;T | snv | 1.2E-05; 4.0E-06 | 1 | ||
| rs762896453 | 1.000 | 0.120 | 16 | 28482353 | synonymous variant | G/A | snv | 4.0E-06 | 1 | ||
| rs794729218 | 1.000 | 0.120 | 13 | 76995933 | frameshift variant | G/- | del | 1 | |||
| rs796052407 | 1.000 | 0.120 | 11 | 1759569 | missense variant | G/A | snv | 4.0E-06 | 4.2E-05 | 1 | |
| rs137852695 | 0.925 | 0.120 | 1 | 40091398 | missense variant | T/A | snv | 7.0E-04 | 6.0E-04 | 4 | |
| 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 | ||
| rs397515352 | 0.925 | 0.120 | 15 | 68211844 | frameshift variant | -/G | delins | 2.4E-05; 2.8E-05 | 3 | ||
| rs750033880 | 0.925 | 0.120 | 7 | 66633302 | missense variant | G/A | snv | 1.4E-05 | 3 | ||
| rs104894385 | 0.925 | 0.120 | 13 | 76992176 | stop gained | G/A;T | snv | 2.7E-05; 3.1E-05 | 2 | ||
| rs104894386 | 0.925 | 0.120 | 13 | 76995077 | missense variant | G/A;C | snv | 8.0E-06 | 2 | ||
| rs1057516677 | 0.925 | 0.120 | 16 | 28477875 | stop gained | G/T | snv | 2 | |||
| rs113019349 | 0.925 | 0.120 | 11 | 6616004 | splice donor variant | C/G;T | snv | 2 | |||
| rs119455954 | 0.925 | 0.120 | 11 | 6616056 | missense variant | C/T | snv | 1.6E-05 | 4.9E-05 | 2 | |
| rs121908080 | 0.925 | 0.120 | 15 | 68211698 | inframe deletion | ATG/- | delins | 2 | |||
| rs121908199 | 0.925 | 0.120 | 11 | 6615542 | missense variant | C/T | snv | 2 | |||
| rs121908200 | 0.925 | 0.120 | 11 | 6615442 | missense variant | C/G | snv | 2.0E-05 | 2.1E-05 | 2 | |
| rs121908202 | 0.925 | 0.120 | 11 | 6615172 | missense variant | G/A | snv | 2.4E-05 | 2 |