| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs786205154 | 1.000 | 0.120 | 12 | 11885921 | coding sequence variant | GAACA/- | delins | 3 | |||
| rs1553268563 | 1 | 215845823 | coding sequence variant | C/- | delins | 2 | |||||
| rs1131692232 | 0.851 | 0.160 | 8 | 143818426 | inframe deletion | GGGCAAAGG/- | delins | 6 | |||
| rs766667249 | 1.000 | 16 | 578912 | inframe deletion | ACT/- | delins | 1.5E-04 | 1.1E-04 | 3 | ||
| rs1555950665 | 1.000 | X | 41334255 | start lost | G/C | snv | 4 | ||||
| rs1340611668 | 1 | 210348976 | start lost | A/G;T | snv | 7.0E-06 | 1 | ||||
| rs201553266 | 0.882 | 0.080 | 2 | 151551738 | splice region variant | C/T | snv | 2.8E-05 | 7.0E-06 | 4 | |
| rs398122407 | 1.000 | 0.200 | 15 | 91004872 | splice region variant | C/G | snv | 2.0E-05 | 2 | ||
| rs72658127 | 1.000 | 7 | 94413139 | splice region variant | A/G | snv | 2 | ||||
| rs764358419 | 1.000 | 16 | 89649495 | splice region variant | G/A;T | snv | 1.6E-05; 1.2E-05 | 2 | |||
| rs138659167 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 20 | ||
| rs1060502716 | 1.000 | 0.080 | 22 | 28695874 | splice acceptor variant | C/A;G;T | snv | 3 | |||
| rs1555934843 | 1.000 | X | 19357651 | splice acceptor variant | G/A | snv | 3 | ||||
| rs797044953 | 1.000 | 3 | 9447684 | splice acceptor variant | A/T | snv | 3 | ||||
| rs1553182933 | 1.000 | 1 | 61404103 | splice acceptor variant | G/A | snv | 2 | ||||
| rs1553326645 | 1.000 | 1 | 197094181 | splice acceptor variant | C/G | snv | 2 | ||||
| rs1554928978 | 1.000 | 10 | 121517425 | splice acceptor variant | CTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAAC/- | delins | 2 | ||||
| rs1556299881 | 1.000 | X | 107640900 | splice acceptor variant | A/G | snv | 2 | ||||
| rs368934219 | 1.000 | 6 | 44303177 | splice acceptor variant | T/C | snv | 1.6E-05 | 1.4E-05 | 2 | ||
| rs763100457 | 1.000 | 0.080 | 19 | 12652271 | splice acceptor variant | C/A | snv | 8.0E-06 | 2.1E-05 | 2 | |
| rs1553275644 | 1 | 220182355 | splice acceptor variant | C/T | snv | 1 | |||||
| rs1553706324 | 3 | 38614067 | splice acceptor variant | C/G | snv | 1 | |||||
| rs1555564006 | 17 | 44852563 | splice acceptor variant | C/T | snv | 1 | |||||
| rs80338903 | 0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 | 25 | |
| rs34002892 | 0.851 | 0.200 | 12 | 101753470 | frameshift variant | GA/- | delins | 5.1E-04 | 3.5E-04 | 8 |