| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs267606826 | 0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv | 38 | |||
| rs1085307993 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 53 | |||
| rs796052505 | 0.724 | 0.440 | 5 | 162095551 | missense variant | G/A;C | snv | 57 | |||
| rs786205861 | 1.000 | 0.120 | 19 | 12896913 | missense variant | C/T | snv | 3 | |||
| rs1566658823 | 1.000 | 0.120 | 14 | 54844138 | missense variant | A/G | snv | 4 | |||
| rs104894442 | 1.000 | 0.040 | 14 | 54844023 | missense variant | C/G | snv | 4.0E-06 | 3 | ||
| rs1566687487 | 14 | 54902537 | frameshift variant | -/G | delins | 1 | |||||
| rs753374463 | 18 | 11689847 | missense variant | T/C | snv | 2.2E-05 | 2.1E-05 | 2 | |||
| rs1555507479 | 0.807 | 0.160 | 16 | 56336799 | missense variant | C/A | snv | 12 | |||
| rs752746786 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 30 | ||
| rs1135401746 | 0.827 | 0.400 | 1 | 1806512 | missense variant | C/G | snv | 7 | |||
| rs1296383102 | 2 | 190208898 | missense variant | G/C | snv | 4.0E-06 | 2 | ||||
| rs550921485 | 1.000 | 0.080 | 1 | 32893848 | missense variant | G/A | snv | 4.9E-04 | 7.0E-05 | 3 | |
| rs775863165 | 1.000 | 0.080 | 1 | 32889110 | missense variant | C/A;T | snv | 4.0E-06 | 3 | ||
| rs786205675 | 1.000 | 0.080 | 1 | 32889123 | missense variant | C/A | snv | 3 | |||
| rs574658589 | 1 | 32888928 | synonymous variant | C/T | snv | 1.2E-05 | 2 | ||||
| rs1555731819 | 0.807 | 0.200 | 19 | 35729980 | missense variant | G/T | snv | 26 | |||
| rs1057519279 | 1.000 | 19 | 35720980 | stop gained | C/T | snv | 3 | ||||
| rs1057519281 | 1.000 | 19 | 35721775 | stop gained | C/T | snv | 3 | ||||
| rs1554317002 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 45 | |||
| rs34015634 | 0.851 | 0.120 | 12 | 40340380 | missense variant | T/C | snv | 3.2E-05 | 1.4E-05 | 8 | |
| rs1569548274 | 0.701 | 0.520 | X | 154030553 | splice acceptor variant | TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- | delins | 43 | |||
| rs137852968 | 0.925 | 0.080 | 20 | 3916955 | stop gained | C/A;T | snv | 4.0E-06; 1.2E-05; 3.6E-05 | 3 | ||
| rs1372180906 | 11 | 2171856 | 5 prime UTR variant | C/T | snv | 7.0E-06 | 1 | ||||
| rs1114167290 | 0.882 | 0.080 | 15 | 52340235 | missense variant | G/C | snv | 5 |