| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1064793014 | 1 | 94007707 | missense variant | T/C | snv | 1 | |||||
| rs1356104318 | 1 | 94098850 | stop gained | G/A;C | snv | 4.0E-06 | 1 | ||||
| rs149071415 | 1 | 94047024 | missense variant | A/G | snv | 4.0E-05 | 8.4E-05 | 1 | |||
| rs1553190559 | 1 | 94042790 | missense variant | A/T | snv | 1 | |||||
| rs1553192432 | 1 | 94060712 | frameshift variant | -/C | delins | 1 | |||||
| rs61748538 | 1.000 | 1 | 94098904 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 1 | ||
| rs61752419 | 1 | 94042786 | stop gained | C/T | snv | 1 | |||||
| rs776757706 | 1 | 94014688 | stop gained | C/T | snv | 4.0E-06 | 1 | ||||
| rs869312184 | 1 | 94048898 | frameshift variant | C/- | delins | 1 | |||||
| rs878853396 | 1 | 94062641 | stop gained | G/A;C | snv | 4.0E-06 | 1 | ||||
| rs878853397 | 1 | 94043428 | frameshift variant | T/- | delins | 1 | |||||
| rs1555811525 | 20 | 25309577 | splice acceptor variant | T/C | snv | 1 | |||||
| rs758316679 | 20 | 25339350 | stop gained | G/A | snv | 2.0E-05 | 7.0E-06 | 1 | |||
| rs878853348 | 5 | 90679604 | frameshift variant | TTCC/- | delins | 1 | |||||
| rs1553403585 | 2 | 73449482 | frameshift variant | -/CTATTCTGGACTG | ins | 1 | |||||
| rs878853352 | 4 | 121828692 | stop gained | AG/TCT | delins | 1 | |||||
| rs1555096248 | 11 | 61950428 | splice donor variant | G/T | snv | 1 | |||||
| rs1554998040 | 11 | 67458613 | splice acceptor variant | TGCCCTTCTCTCCCGCAGAGTTTGTGATGATGCTCTCCCGCCACTGAGGCTCCAGGAGGGAATATCTGTTGCCCCTGCGGCCCCAGACACCAGCCAGACCCAGGCTGCAGGCCTCCCCCAGGAGCCTCCAGGATGGAGATGGAGACCCAGCAGCCCCCAGACTACTTCTATCCCTGAAAACACCTGGCCTCAATGTTGGCTTGTTATGTTACCTGCCCACCCTCATCCTTACCTCCTCCTACTCAAGCTGCCTGGAGAAGACCTGCTCTCAGCTGCCCACCGTTCCTCAGTGTGAGCAAGATTTGGGTCTCTCCAGACCTCTGGGAGGTAGGGAGTTCCCTGGCACTGGCAGCATTCAGTGGGGACCCCCCAGTGGCATGATGAATGGAGAGGATGGCTGGACCCCTTCCACTACTTATGTTTATAATTTTTTTTTTTTTTAATGAACTTGAGCCGGGTGCAGTGGCTCACACCTGTAAGCCCAGCTGTCAGGGGGCAGAAGCGGGAGGATAGCTTGAGCCCAGGAGTGCAAGACCTGCCTGGGCAATATACTGAGACCCCATTCTCCACAAAAAGGAAAAATAAAAGACAAAAAAACAAACAAAAAACCAAAAAACCCAAGTGTAAAAAAAGTGAGCTTGAAAGAAAGAAAGGGATGGCTCCATGTATCAAAGACAAAGAAATCAAAGCTGGGGTTGTAAGAGGGAGCTGACGCTGTGGGGGTTTCAGATCTGGATGGAGGCTTGGCCGCCTGGACTCCTACAACCATGAGTGACAGAAGAACCATATGAGTCTGGGGAGCAAGAAACAAACCCCCCGGATATATTCCAGGGTCTCCAAAG/- | del | 1 | |||||
| rs878853337 | 10 | 71805841 | stop gained | C/G;T | snv | 4.0E-06 | 1 | ||||
| rs147346345 | 1.000 | 0.040 | 10 | 84203123 | splice region variant | G/A;C;T | snv | 2.9E-03; 4.0E-06 | 1 | ||
| rs1554857529 | 10 | 84211128 | missense variant | A/G | snv | 1 | |||||
| rs878853347 | 10 | 84196622 | frameshift variant | -/C | delins | 1 | |||||
| rs371496675 | 12 | 88117076 | stop gained | A/T | snv | 1.7E-05 | 1.4E-05 | 1 | |||
| rs878853361 | 12 | 88083858 | stop gained | G/A | snv | 1 | |||||
| rs878853362 | 12 | 88093897 | frameshift variant | TA/- | delins | 4.0E-06 | 1 |