| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs386833731 | 1.000 | 0.120 | 16 | 28486459 | missense variant | C/A;G | snv | 4.0E-06 | 1 | ||
| rs386833721 | 1.000 | 0.120 | 16 | 28486663 | non coding transcript exon variant | C/A;G;T | snv | 4.5E-06; 1.3E-05 | 1 | ||
| rs121434286 | 0.882 | 0.120 | 16 | 28482500 | stop gained | C/A;T | snv | 2.4E-05 | 3 | ||
| rs386833744 | 0.925 | 0.160 | 16 | 28482173 | missense variant | C/A;T | snv | 2.0E-05 | 2 | ||
| rs386833726 | 1.000 | 0.120 | 16 | 28491558 | stop gained | C/A;T | snv | 2.8E-05 | 1 | ||
| rs386833742 | 1.000 | 0.120 | 16 | 28482199 | splice acceptor variant | C/A;T | snv | 1 | |||
| rs386833699 | 1.000 | 0.120 | 16 | 28482105 | missense variant | C/G | snv | 1 | |||
| rs386833711 | 1.000 | 0.120 | 16 | 28489285 | splice region variant | C/G | snv | 1 | |||
| rs386833730 | 1.000 | 0.120 | 16 | 28486464 | missense variant | C/G | snv | 4.0E-06 | 1 | ||
| rs1057516343 | 1.000 | 0.120 | 16 | 28491713 | splice donor variant | C/G;T | snv | 1 | |||
| rs386833722 | 1.000 | 0.120 | 16 | 28486651 | splice acceptor variant | C/G;T | snv | 1 | |||
| rs386833723 | 1.000 | 0.120 | 16 | 28486639 | missense variant | C/G;T | snv | 4.2E-06 | 1 | ||
| rs386833728 | 1.000 | 0.120 | 16 | 28486577 | splice donor variant | C/G;T | snv | 1 | |||
| rs386833695 | 0.925 | 0.120 | 16 | 28482160 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 | 2 | |
| rs1057516267 | 1.000 | 0.120 | 16 | 28482326 | splice donor variant | C/T | snv | 1 | |||
| rs1057517350 | 1.000 | 0.120 | 16 | 28482673 | splice acceptor variant | C/T | snv | 1 | |||
| rs1555469089 | 1.000 | 0.120 | 16 | 28488663 | splice acceptor variant | C/T | snv | 1 | |||
| rs1555469477 | 1.000 | 0.120 | 16 | 28491561 | splice acceptor variant | C/T | snv | 1 | |||
| rs386833700 | 1.000 | 0.120 | 16 | 28491502 | stop gained | C/T | snv | 4.0E-06 | 1 | ||
| rs386833704 | 1.000 | 0.120 | 16 | 28491477 | splice region variant | C/T | snv | 1.6E-05 | 1.4E-05 | 1 | |
| rs386833705 | 1.000 | 0.120 | 16 | 28489387 | splice acceptor variant | C/T | snv | 4.2E-06 | 1 | ||
| rs386833716 | 1.000 | 0.120 | 16 | 28487662 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
| rs386833733 | 1.000 | 0.120 | 16 | 28486449 | missense variant | C/T | snv | 1 | |||
| rs386833739 | 1.000 | 0.120 | 16 | 28482472 | splice region variant | C/T | snv | 1 | |||
| rs386833741 | 1.000 | 0.120 | 16 | 28482309 | splice donor variant | CCTCGCTCCTCTTACCAGCGGTATTGC/- | delins | 2.1E-05 | 1 |