| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1064793013 | 1.000 | 0.080 | 1 | 94008300 | splice region variant | G/A;T | snv | 1 | |||
| rs1553188588 | 1.000 | 0.080 | 1 | 94021235 | splice region variant | C/T | snv | 1 | |||
| rs61749414 | 0.882 | 0.080 | 1 | 94062611 | stop gained | G/A;T | snv | 1 | |||
| rs779466403 | 1.000 | 0.080 | 1 | 94055161 | missense variant | T/A | snv | 1 | |||
| rs863223338 | 1.000 | 0.080 | 1 | 94044736 | frameshift variant | A/- | del | 1 | |||
| rs587777602 | 0.882 | 0.160 | 20 | 25302260 | missense variant | G/C | snv | 1 | |||
| rs879253768 | 0.925 | 0.080 | 2 | 27055228 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 1 | |
| rs1554338016 | 1.000 | 0.080 | 6 | 135429945 | missense variant | G/A | snv | 1 | |||
| rs773278338 | 1.000 | 0.080 | 6 | 135428682 | stop gained | -/CT | ins | 8.2E-06 | 1 | ||
| rs777215595 | 1.000 | 0.080 | 6 | 135394853 | stop gained | G/C | snv | 6.4E-05 | 4.9E-05 | 1 | |
| rs372989281 | 1.000 | 0.080 | 11 | 61958194 | missense variant | C/G;T | snv | 4.0E-06; 4.8E-05 | 1 | ||
| rs1245199379 | 0.925 | 0.080 | 17 | 60150068 | missense variant | G/A | snv | 4.5E-06 | 7.0E-06 | 1 | |
| rs397517328 | 1.000 | 0.080 | 10 | 71511216 | splice region variant | G/A | snv | 1.5E-03 | 3.1E-04 | 1 | |
| rs1477733493 | 1.000 | 0.080 | 10 | 84211689 | stop gained | T/G | snv | 4.0E-06 | 1 | ||
| rs794727197 | 1.000 | 0.080 | 10 | 84214557 | frameshift variant | TCTCTGA/- | delins | 1 | |||
| rs281865188 | 1.000 | 0.080 | 12 | 88077281 | frameshift variant | -/T | delins | 7.0E-06 | 1 | ||
| rs886041178 | 1.000 | 0.080 | X | 85958923 | stop gained | G/A;T | snv | 1.1E-05 | 1 | ||
| rs139842473 | 1.000 | 0.080 | 16 | 28477620 | missense variant | G/A;C;T | snv | 7.2E-05; 4.0E-06 | 1 | ||
| rs375412499 | 1.000 | 0.080 | 4 | 47937655 | missense variant | C/T | snv | 3.2E-05 | 3.5E-05 | 1 | |
| rs1352458826 | 1.000 | 0.080 | 16 | 57916161 | stop gained | G/A | snv | 4.0E-06 | 2.1E-05 | 1 | |
| rs1555488069 | 1.000 | 0.080 | 16 | 57897911 | stop gained | C/A | snv | 1 | |||
| rs1555488573 | 1.000 | 0.080 | 16 | 57903940 | stop gained | G/T | snv | 1 | |||
| rs1555493707 | 1.000 | 0.080 | 16 | 57959886 | splice donor variant | A/T | snv | 1 | |||
| rs201162411 | 1.000 | 0.080 | 16 | 57901371 | missense variant | T/A | snv | 1.1E-03 | 1.1E-03 | 1 | |
| rs527236060 | 1.000 | 0.080 | 16 | 57964482 | splice region variant | C/G;T | snv | 4.8E-05; 8.0E-06 | 1 |