| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs80338717 | 0.882 | 0.120 | 7 | 96193032 | splice region variant | C/T | snv | 1.1E-04 | 2.8E-05 | 3 | |
| rs80338719 | 0.882 | 0.120 | 7 | 96191189 | stop gained | G/A;T | snv | 2.8E-05; 4.0E-06 | 3 | ||
| rs80338720 | 0.882 | 0.120 | 7 | 96189372 | frameshift variant | ATAC/- | delins | 3 | |||
| rs80338722 | 0.882 | 0.120 | 7 | 96184276 | splice donor variant | C/T | snv | 4.8E-05 | 1.4E-05 | 3 | |
| rs80338725 | 0.882 | 0.120 | 7 | 96121928 | frameshift variant | -/CCCGGGCAGCCACCTGTAATCTC | delins | 8.8E-05 | 1.4E-05 | 3 | |
| rs80338726 | 0.882 | 0.120 | 7 | 96121696 | stop gained | -/T;TTT | delins | 2.8E-05; 2.4E-05; 8.0E-06 | 3 | ||
| rs1060499612 | 0.925 | 0.120 | 7 | 96208837 | splice donor variant | C/G | snv | 7.0E-06 | 2 | ||
| rs80338727 | 0.925 | 0.120 | 7 | 96121695 | stop gained | C/A;T | snv | 2 | |||
| rs1562774655 | 1.000 | 0.120 | 7 | 96121924 | frameshift variant | -/CCGGGCAGCCACCTGTAATCTCC | delins | 1 | |||
| rs1562831765 | 1.000 | 0.120 | 7 | 96193159 | stop gained | G/A | snv | 1 | |||
| rs6957975 | 1.000 | 0.120 | 7 | 96234796 | splice region variant | T/C | snv | 0.62 | 0.67 | 1 | |
| rs746155190 | 1.000 | 0.120 | 7 | 96189654 | stop gained | G/A;C | snv | 4.0E-06 | 1 | ||
| rs879255504 | 1.000 | 0.120 | 7 | 96193157 | frameshift variant | T/- | delins | 1 |