| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1557036768 | 0.708 | 0.320 | X | 53647390 | missense variant | C/T | snv | 44 | |||
| rs267606670 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 19 | |||
| rs139455627 | 0.851 | 0.240 | 21 | 44531087 | stop gained | G/A | snv | 3.2E-04 | 2.7E-04 | 14 | |
| rs1569151872 | 0.851 | 0.240 | 21 | 44509225 | frameshift variant | GAC/AA | delins | 14 | |||
| rs113993993 | 0.851 | 0.040 | 7 | 66994210 | splice donor variant | A/C;G | snv | 4.0E-06; 3.9E-03 | 9 | ||
| rs120074160 | 0.925 | 7 | 66994286 | stop gained | T/A | snv | 1.7E-04 | 1.0E-03 | 7 |