| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs9456735 | 1.000 | 0.040 | 6 | 162054135 | start lost | T/A;G | snv | 4.0E-06; 4.4E-03 | 1 | ||
| rs387906422 | 0.925 | 0.040 | MT | 8528 | start lost | T/C | snv | 1 | |||
| rs1553957997 | 1.000 | 0.080 | 4 | 155908907 | start lost | G/C | snv | 1 | |||
| rs60364670 | 1.000 | 17 | 41505228 | start lost | A/G | snv | 1 | ||||
| rs532178791 | 1.000 | 3 | 132665830 | start lost | A/G | snv | 1.0E-04 | 1.4E-05 | 1 | ||
| rs869312825 | 0.827 | 0.120 | 1 | 1804548 | start lost | T/C | snv | 1 | |||
| rs1060505039 | 1.000 | 17 | 1509784 | start lost | T/C | snv | 1 | ||||
| rs768633670 | 1.000 | 21 | 37072514 | start lost | A/G | snv | 3.2E-05 | 4.2E-05 | 1 | ||
| rs137852231 | 1.000 | 0.080 | X | 139541085 | splice acceptor variant | A/C | snv | 1 | |||
| rs111033646 | 1.000 | 0.120 | 9 | 34647119 | splice acceptor variant | A/C | snv | 1 | |||
| rs1228068212 | 1.000 | 0.160 | 11 | 6392005 | splice acceptor variant | G/A | snv | 4.0E-06 | 2.8E-05 | 1 | |
| rs78506343 | 1.000 | 0.080 | 4 | 154585711 | splice acceptor variant | C/A;G;T | snv | 4.0E-06; 4.4E-05 | 1 | ||
| rs121909613 | 0.882 | 0.160 | 4 | 154585712 | splice acceptor variant | G/A;C;T | snv | 4.8E-05; 4.0E-06 | 1 | ||
| rs121917846 | 1.000 | 0.120 | 5 | 134621002 | splice acceptor variant | C/T | snv | 1 | |||
| rs1554887213 | 1.000 | 0.200 | 10 | 100989774 | splice acceptor variant | G/T | snv | 1 | |||
| rs80356726 | 0.763 | 0.120 | 1 | 11022352 | splice acceptor variant | G/A | snv | 4.0E-06 | 1 | ||
| rs387906770 | 1.000 | 8 | 11708439 | splice acceptor variant | C/A;T | snv | 1 | ||||
| rs587777611 | 1.000 | 5 | 139480871 | splice acceptor variant | C/G | snv | 1 | ||||
| rs146343535 | 1.000 | 7 | 103303985 | splice acceptor variant | G/C | snv | 2.4E-05 | 4.9E-05 | 1 | ||
| rs60695352 | 0.925 | 0.120 | 1 | 156115067 | splice donor variant | G/A;C;T | snv | 9.5E-06 | 2 | ||
| rs869312227 | 1.000 | 0.160 | X | 101397981 | splice donor variant | C/T | snv | 1 | |||
| rs768474112 | 1.000 | 0.080 | 4 | 186273177 | splice donor variant | G/A | snv | 2.0E-05 | 2.1E-05 | 1 | |
| rs111033564 | 0.925 | 0.040 | 7 | 142751808 | splice donor variant | G/A | snv | 3.6E-05 | 9.8E-05 | 1 | |
| rs267607727 | 0.925 | 0.160 | 3 | 37001049 | splice donor variant | G/A;T | snv | 1 | |||
| rs104894296 | 1.000 | 0.080 | 11 | 121307244 | splice donor variant | G/A | snv | 1 |