| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs387907145 | 0.695 | 0.440 | 16 | 4800548 | stop gained | G/A | snv | 36 | |||
| rs786205124 | 0.701 | 0.400 | 16 | 4798593 | frameshift variant | G/-;GGG | delins | 3.5E-05 | 35 | ||
| rs1039568775 | 1.000 | 0.160 | 16 | 4797967 | frameshift variant | -/C | delins | 2.1E-05 | 1 | ||
| rs1060502981 | 1.000 | 0.160 | 16 | 4801587 | splice acceptor variant | T/C | snv | 1 | |||
| rs1555491350 | 1.000 | 0.160 | 16 | 4799778 | stop gained | G/A | snv | 1 | |||
| rs387907146 | 1.000 | 0.160 | 16 | 4798631 | stop gained | G/A | snv | 7.0E-06 | 1 | ||
| rs570952151 | 1.000 | 0.160 | 16 | 4802381 | splice donor variant | C/G;T | snv | 7.0E-06 | 1 | ||
| rs749657986 | 1.000 | 0.160 | 16 | 4798564 | splice region variant | C/A;G;T | snv | 6.2E-06 | 1 | ||
| rs764899074 | 1.000 | 0.160 | 16 | 4801292 | frameshift variant | AG/- | delins | 8.1E-06 | 1 | ||
| rs786205119 | 1.000 | 0.160 | 16 | 4798186 | splice acceptor variant | T/A | snv | 7.0E-06 | 1 | ||
| rs786205125 | 1.000 | 0.160 | 16 | 4802483 | non coding transcript exon variant | CCCCGCCG/-;CCCCGCCGCCCCGCCG | delins | 1.4E-05 | 1 |