| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs386833736 | 0.925 | 0.120 | 16 | 28486401 | frameshift variant | -/A | delins | 1.2E-05 | 7.0E-06 | 2 | |
| rs1057516335 | 1.000 | 0.120 | 16 | 28484112 | frameshift variant | -/A | delins | 1 | |||
| rs1555467473 | 1.000 | 0.120 | 16 | 28477866 | frameshift variant | -/A | delins | 1 | |||
| rs386833715 | 1.000 | 0.120 | 16 | 28487665 | frameshift variant | -/A | delins | 4.0E-06 | 1 | ||
| rs587779397 | 1.000 | 0.120 | 16 | 28487664 | frameshift variant | -/A | ins | 4.0E-06 | 1 | ||
| rs386833712 | 1.000 | 0.120 | 16 | 28488651 | frameshift variant | -/C | delins | 1 | |||
| rs1555469159 | 1.000 | 0.120 | 16 | 28489316 | frameshift variant | -/G | delins | 1 | |||
| rs386833740 | 0.925 | 0.120 | 16 | 28482344 | frameshift variant | -/T | delins | 3.2E-05; 4.0E-06 | 2 | ||
| rs386833710 | 1.000 | 0.120 | 16 | 28489288 | splice donor variant | A/C | snv | 1 | |||
| rs386833719 | 1.000 | 0.120 | 16 | 28487516 | missense variant | A/C;G | snv | 4.0E-06 | 1 | ||
| rs386833714 | 1.000 | 0.120 | 16 | 28487734 | missense variant | A/G | snv | 1 | |||
| rs386833727 | 1.000 | 0.120 | 16 | 28486602 | missense variant | A/G | snv | 1 | |||
| rs777625354 | 1.000 | 0.120 | 16 | 28491758 | start lost | A/G | snv | 4.0E-06 | 1 | ||
| rs771788391 | 1.000 | 0.120 | 16 | 28482475 | splice donor variant | A/T | snv | 8.0E-06 | 1 | ||
| rs1057517215 | 1.000 | 0.120 | 16 | 28488603 | frameshift variant | AG/- | delins | 1 | |||
| rs1555468634 | 0.925 | 0.120 | 16 | 28485965 | splice donor variant | ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/- | del | 2 | |||
| rs386833720 | 0.925 | 0.120 | 16 | 28487492 | frameshift variant | C/- | delins | 4.0E-06 | 7.0E-06 | 2 | |
| rs1555468374 | 1.000 | 0.120 | 16 | 28484005 | splice donor variant | C/- | delins | 1 | |||
| rs1555469452 | 1.000 | 0.120 | 16 | 28491481 | splice donor variant | C/- | delins | 1 | |||
| rs386833707 | 1.000 | 0.120 | 16 | 28477561 | frameshift variant | C/- | delins | 1 | |||
| rs386833732 | 0.925 | 0.120 | 16 | 28486455 | frameshift variant | C/-;CC | delins | 2 | |||
| rs386833735 | 1.000 | 0.120 | 16 | 28486438 | frameshift variant | C/-;CC | delins | 4.1E-06 | 1 | ||
| rs1057517287 | 1.000 | 0.120 | 16 | 28486346 | splice donor variant | C/A | snv | 1 | |||
| rs386833702 | 1.000 | 0.120 | 16 | 28477636 | splice acceptor variant | C/A | snv | 8.0E-06 | 7.0E-06 | 1 | |
| rs386833701 | 1.000 | 0.120 | 16 | 28477739 | stop gained | C/A;G | snv | 4.0E-06 | 1 |