| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs74315445 | 0.807 | 0.120 | 21 | 34449409 | missense variant | C/T | snv | 6.8E-05 | 5.3E-05 | 5 | |
| rs1805128 | 0.776 | 0.160 | 21 | 34449382 | missense variant | C/T | snv | 9.4E-03 | 3 | ||
| rs758346045 | 1.000 | 0.080 | 21 | 34449497 | stop gained | G/A;T | snv | 2.0E-05; 8.0E-06 | 3 | ||
| rs1244688796 | 0.925 | 0.200 | 21 | 34449584 | stop gained | C/T | snv | 4.0E-06 | 2 | ||
| rs779124360 | 0.925 | 0.200 | 21 | 34449585 | stop gained | C/T | snv | 4.0E-06 | 2 | ||
| rs747321794 | 21 | 34449462 | missense variant | G/A | snv | 2.8E-05 | 1 | ||||
| rs1555843953 | 1.000 | 0.120 | 21 | 34449430 | frameshift variant | TGGA/- | del | 1 | |||
| rs1131691762 | 1.000 | 0.120 | 21 | 34449622 | frameshift variant | -/A | delins | 4.0E-06 | 1 | ||
| rs199473362 | 1.000 | 0.120 | 21 | 34449343 | missense variant | G/A;C;T | snv | 3.2E-05; 4.0E-06 | 1 | ||
| rs1568836457 | 1.000 | 0.120 | 21 | 34449455 | inframe deletion | CAGGGTGAAGAAGCC/- | delins | 1 | |||
| rs281865421 | 1.000 | 0.080 | 21 | 34449458 | missense variant | CAGGGT/AGGGGG | mnv | 1 | |||
| rs28933384 | 1.000 | 0.080 | 21 | 34449615 | missense variant | G/A | snv | 4.0E-06 | 1 |