| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1413339367 | 1 | 42930661 | stop gained | G/A | snv | 1 | |||||
| rs1553155982 | 1.000 | 0.040 | 1 | 42928996 | missense variant | T/A | snv | 1 | |||
| rs1057518953 | 1 | 42930742 | missense variant | C/T | snv | 1 | |||||
| rs864309514 | 1.000 | 0.280 | 1 | 42929603 | missense variant | C/T | snv | 1 | |||
| rs864309522 | 1.000 | 0.280 | 1 | 42927212 | inframe deletion | TGA/- | delins | 1 | |||
| rs80359812 | 1.000 | 0.040 | 1 | 42943239 | missense variant | T/A | snv | 1 | |||
| rs267607060 | 1.000 | 0.040 | 1 | 42930858 | missense variant | GA/AT | mnv | 1 | |||
| rs1553156047 | 1.000 | 0.040 | 1 | 42929605 | inframe deletion | AGACAGCTGCTG/- | del | 1 | |||
| rs1345986424 | 0.851 | 0.160 | 1 | 42943291 | stop gained | C/A;T | snv | 1 | |||
| rs80359819 | 0.925 | 0.080 | 1 | 42930754 | missense variant | C/G;T | snv | 1 | |||
| rs1557646893 | 1.000 | 1 | 42931205 | splice acceptor variant | -/CC | delins | 1 | ||||
| rs267607059 | 0.925 | 0.080 | 1 | 42927118 | missense variant | G/A | snv | 1 | |||
| rs796053263 | 1.000 | 1 | 42927685 | missense variant | G/A | snv | 1 | ||||
| rs869312673 | 1.000 | 1 | 42930036 | splice acceptor variant | C/G;T | snv | 1 | ||||
| rs1553156051 | 1.000 | 1 | 42929625 | stop gained | G/A | snv | 1 | ||||
| rs1553155887 | 1.000 | 1 | 42927704 | frameshift variant | T/- | delins | 1 | ||||
| rs796053253 | 0.925 | 0.040 | 1 | 42929211 | missense variant | G/A | snv | 1 | |||
| rs1553156199 | 1.000 | 1 | 42931093 | frameshift variant | -/C | delins | 1 | ||||
| rs387907313 | 1.000 | 1 | 42929766 | missense variant | G/A | snv | 4.0E-06 | 1 | |||
| rs398123069 | 1.000 | 1 | 42927651 | missense variant | T/C | snv | 1 | ||||
| rs397514564 | 1.000 | 1 | 42929884 | missense variant | C/G;T | snv | 1.2E-05 | 1 | |||
| rs1557646673 | 1.000 | 0.080 | 1 | 42930842 | frameshift variant | -/T | delins | 1 | |||
| rs80359829 | 1.000 | 0.080 | 1 | 42927154 | stop gained | T/A | snv | 1 | |||
| rs587784397 | 1.000 | 0.080 | 1 | 42929613 | stop gained | G/A | snv | 1 | |||
| rs587784390 | 1.000 | 0.080 | 1 | 42943240 | missense variant | T/C | snv | 1 |