| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1178187217 | 0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 | 38 | ||
| rs201943194 | 0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 | 38 | |
| rs1569162748 | 0.925 | 0.120 | X | 13767142 | frameshift variant | AAATT/- | del | 7 | |||
| rs770861172 | 0.827 | 0.160 | 2 | 195857582 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 6 | |
| rs746242380 | 1.000 | 0.080 | 17 | 44902646 | frameshift variant | AGAG/-;AG;AGAGAG | delins | 1.6E-05 | 2.8E-05 | 4 | |
| rs116128702 | 1.000 | 5 | 13923369 | stop gained | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 4 | |||
| rs138890576 | 0.882 | 0.160 | 5 | 13844931 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 4 | |
| rs145457535 | 0.827 | 0.160 | 17 | 44902549 | missense variant | A/C | snv | 1.2E-03 | 1.3E-03 | 3 | |
| rs147718607 | 0.925 | 0.160 | 19 | 48303953 | missense variant | C/T | snv | 2.4E-04 | 2.2E-04 | 3 | |
| rs863223325 | 0.925 | 0.160 | 12 | 48918751 | frameshift variant | AT/- | delins | 3 | |||
| rs587777498 | 0.925 | 0.160 | 5 | 55233272 | frameshift variant | CAGGG/-;CAGGGCAGGG | delins | 3 | |||
| rs587777499 | 0.925 | 0.160 | 5 | 55233261 | frameshift variant | -/CGGGC;CGGGCCGGGC | delins | 3 | |||
| rs587777502 | 0.925 | 0.160 | 5 | 55233256 | frameshift variant | -/TGGGC | delins | 4.9E-06; 1.3E-04; 4.9E-06; 2.0E-05 | 3 | ||
| rs143740376 | 0.925 | 0.160 | 21 | 32609853 | stop gained | G/A | snv | 7.6E-05 | 8.4E-05 | 3 | |
| rs202094637 | 0.925 | 0.160 | 21 | 32602299 | stop gained | G/A;C | snv | 4.0E-06; 8.0E-05 | 3 | ||
| rs267607227 | 0.925 | 0.160 | 16 | 84154748 | missense variant | T/C;G | snv | 3 | |||
| rs387907152 | 0.925 | 0.160 | 19 | 55165427 | stop gained | G/A | snv | 7.0E-06 | 3 | ||
| rs755407407 | 0.925 | 0.160 | 5 | 13762777 | missense variant | C/G | snv | 8.0E-06 | 7.0E-06 | 3 | |
| rs771663107 | 0.882 | 0.160 | 5 | 13865675 | stop gained | G/A | snv | 7.0E-06 | 3 | ||
| rs387907021 | 0.925 | 0.160 | 14 | 73689432 | missense variant | A/G | snv | 3 | |||
| rs142371860 | 0.925 | 0.160 | 2 | 26421396 | stop gained | C/A;T | snv | 3.9E-04 | 3 | ||
| rs397515340 | 0.925 | 0.160 | 6 | 43670918 | inframe insertion | GAA/-;GAAGAA | delins | 4.2E-05 | 3 | ||
| rs200913791 | 0.925 | 0.160 | 3 | 50342473 | missense variant | A/G | snv | 2.0E-04 | 3.5E-05 | 3 | |
| rs138320978 | 0.925 | 0.160 | 21 | 42493049 | stop gained | C/A;T | snv | 2.6E-04; 2.0E-05 | 3 | ||
| rs151107532 | 0.925 | 0.160 | 21 | 42486463 | splice acceptor variant | T/G | snv | 3.7E-04 | 4.7E-04 | 3 |