| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs45517169 | 0.925 | 0.120 | 16 | 2062982 | stop gained | C/T | snv | 2 | |||
| rs45517182 | 1.000 | 0.120 | 16 | 2064428 | splice donor variant | G/A;T | snv | 2 | |||
| rs45517258 | 0.925 | 0.120 | 16 | 2076141 | missense variant | C/G;T | snv | 2 | |||
| rs45517308 | 0.925 | 0.120 | 16 | 2081734 | stop gained | C/A;G;T | snv | 8.0E-06 | 2 | ||
| rs45517382 | 0.925 | 0.120 | 16 | 2086834 | missense variant | A/G | snv | 2 | |||
| rs137854117 | 1.000 | 0.120 | 16 | 2048750 | splice donor variant | AGAG/-;AG | delins | 1 | |||
| rs45512692 | 1.000 | 0.120 | 16 | 2048649 | stop gained | A/T | snv | 4.0E-06 | 1 | ||
| rs748011804 | 1.000 | 0.120 | 1 | 9718800 | missense variant | A/G | snv | 1 | |||
| rs1064792923 | 1.000 | 0.120 | 16 | 2088461 | frameshift variant | TCCAACCCCAGCCTAC/- | delins | 1 | |||
| rs137854251 | 1.000 | 0.120 | 16 | 2088227 | frameshift variant | A/- | del | 1 | |||
| rs137854317 | 1.000 | 0.120 | 16 | 2088324 | splice donor variant | G/- | delins | 1 | |||
| rs1567135103 | 1.000 | 0.120 | 16 | 2088579 | stop lost | CCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA/- | del | 1 | |||
| rs45459299 | 1.000 | 0.120 | 16 | 2088314 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
| rs45472701 | 1.000 | 0.120 | 16 | 2088236 | stop gained | C/A;T | snv | 1 | |||
| rs45517404 | 1.000 | 0.120 | 16 | 2088226 | splice acceptor variant | G/A;C;T | snv | 1 | |||
| rs777166275 | 1.000 | 0.120 | 16 | 2088533 | missense variant | G/A;C | snv | 1.2E-05; 4.0E-06 | 1 | ||
| rs118203490 | 1.000 | 0.120 | 9 | 132911103 | stop gained | C/T | snv | 1 | |||
| rs1057521562 | 1.000 | 0.120 | 16 | 2063058 | splice region variant | G/A;C | snv | 1 | |||
| rs1060499647 | 1.000 | 0.120 | 16 | 2064410 | frameshift variant | C/- | del | 1 | |||
| rs1060500914 | 1.000 | 0.120 | 16 | 2076087 | frameshift variant | TCTG/- | delins | 1 | |||
| rs1060500924 | 1.000 | 0.120 | 16 | 2054380 | stop gained | G/T | snv | 1 | |||
| rs1060500934 | 1.000 | 0.120 | 16 | 2071845 | frameshift variant | C/- | delins | 1 | |||
| rs1060500938 | 1.000 | 0.120 | 16 | 2074383 | frameshift variant | CT/- | del | 1 | |||
| rs1060500950 | 1.000 | 0.120 | 16 | 2086833 | frameshift variant | AATGACT/- | del | 1 | |||
| rs1060500972 | 1.000 | 0.120 | 16 | 2085027 | splice donor variant | G/A;T | snv | 1 |