| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
| rs45517412 | 0.882 | 0.200 | 16 | 2088293 | missense variant | C/G;T | snv | 4 | |||
| 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 | |||
| rs28934872 | 0.851 | 0.200 | 16 | 2070571 | missense variant | G/A | snv | 5 | |||
| rs45469298 | 0.851 | 0.200 | 16 | 2070570 | missense variant | C/G;T | snv | 5 | |||
| rs45517305 | 0.851 | 0.240 | 16 | 2081646 | stop gained | C/A;T | snv | 5 | |||
| rs45517395 | 0.882 | 0.200 | 16 | 2088117 | missense variant | G/A;C | snv | 4.0E-06 | 4 | ||
| rs1131691965 | 0.882 | 0.200 | 16 | 2074394 | splice region variant | G/C | snv | 3 | |||
| rs1567387207 | 0.882 | 0.200 | 16 | 2050487 | splice donor variant | G/A | snv | 3 | |||
| rs1567437155 | 0.882 | 0.200 | 16 | 2064286 | frameshift variant | C/- | del | 3 | |||
| rs1567489890 | 1.000 | 0.120 | 16 | 2077476 | non coding transcript exon variant | G/A | snv | 3 | |||
| rs45517179 | 0.882 | 0.200 | 16 | 2064341 | stop gained | C/G;T | snv | 3 | |||
| rs45517222 | 0.882 | 0.200 | 16 | 2072879 | stop gained | C/T | snv | 3 | |||
| rs45517259 | 0.925 | 0.120 | 16 | 2076142 | missense variant | G/A | snv | 3 | |||
| rs773920155 | 0.925 | 0.120 | 16 | 2061946 | stop gained | G/A;T | snv | 4.0E-06 | 3 |