| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1060501915 | 1.000 | 0.080 | 1 | 11998842 | frameshift variant | TGGTGGC/- | delins | 1 | |||
| rs1060501917 | 1.000 | 0.080 | 1 | 12011512 | missense variant | T/G | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs1060502214 | 1.000 | 0.080 | 1 | 156136082 | missense variant | T/G | snv | 1 | |||
| rs1553265924 | 1.000 | 0.080 | 1 | 156136438 | splice donor variant | T/G | snv | 1 | |||
| rs1557525005 | 1.000 | 0.080 | 1 | 11998997 | missense variant | T/G | snv | 1 | |||
| rs28940293 | 0.882 | 0.080 | 1 | 11992606 | missense variant | T/C;G | snv | 8.0E-06 | 3 | ||
| rs1064795123 | 1.000 | 0.080 | 7 | 30609724 | missense variant | T/C;G | snv | 1 | |||
| rs267607557 | 1.000 | 0.080 | 1 | 156137182 | missense variant | T/C;G | snv | 1 | |||
| rs137852972 | 0.752 | 0.240 | 11 | 62702499 | missense variant | T/C | snv | 1.6E-05 | 10 | ||
| rs387906990 | 0.925 | 0.080 | 1 | 11998817 | missense variant | T/C | snv | 4.0E-06 | 4.2E-05 | 2 | |
| rs886037934 | 0.925 | 0.080 | 22 | 30941550 | missense variant | T/C | snv | 2 | |||
| rs1350009895 | 1.000 | 0.080 | 5 | 54456141 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
| rs1557524703 | 1.000 | 0.080 | 1 | 11998808 | missense variant | T/C | snv | 1 | |||
| rs1557537346 | 1.000 | 0.080 | 1 | 12009693 | missense variant | T/C | snv | 1 | |||
| rs879253934 | 1.000 | 0.080 | 1 | 156136216 | missense variant | T/C | snv | 1 | |||
| rs1554338262 | 1.000 | 0.080 | 7 | 30612215 | missense variant | T/A | snv | 1 | |||
| rs1553266024 | 1.000 | 0.080 | 1 | 156136976 | frameshift variant | T/- | del | 1 | |||
| rs1553265342 | 1.000 | 0.080 | 1 | 156134909 | missense variant | GC/TT | mnv | 1 | |||
| rs794728605 | 1.000 | 0.080 | 1 | 156130641 | frameshift variant | GAT/TGGTCACCTGAGAG | delins | 1 | |||
| rs864309525 | 0.925 | 0.120 | 1 | 156115007 | inframe deletion | GAG/- | delins | 3 | |||
| rs1060501925 | 1.000 | 0.080 | 1 | 12011511 | missense variant | G/T | snv | 1 | |||
| rs1553143890 | 1.000 | 0.080 | 1 | 12001555 | splice donor variant | G/T | snv | 1 | |||
| rs1558115754 | 1.000 | 0.080 | 1 | 156114922 | stop gained | G/T | snv | 1 | |||
| rs863224068 | 1.000 | 0.080 | 1 | 11992690 | missense variant | G/T | snv | 1 | |||
| rs28940292 | 0.851 | 0.080 | 1 | 12011510 | missense variant | G/C | snv | 4 |