| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs786205636 | 0.827 | 0.320 | 2 | 169493750 | missense variant | G/A | snv | 7 | |||
| rs1054138918 | 0.925 | 0.120 | 2 | 169487068 | splice acceptor variant | G/C | snv | 4.0E-05 | 2 | ||
| rs121908581 | 0.925 | 0.120 | 2 | 169487811 | missense variant | G/A | snv | 7.0E-06 | 2 | ||
| rs1559122277 | 1.000 | 2 | 169488115 | splice donor variant | G/T | snv | 2 | ||||
| rs1238632042 | 1.000 | 0.040 | 2 | 169492899 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 | 1 | |
| rs137853921 | 1.000 | 0.040 | 2 | 169493769 | missense variant | A/G | snv | 4.2E-03 | 3.7E-03 | 1 | |
| rs1466289570 | 1.000 | 0.120 | 2 | 169503094 | splice acceptor variant | G/A;T | snv | 1.2E-05 | 1 | ||
| rs1272140892 | 1.000 | 0.120 | 2 | 169482312 | frameshift variant | A/- | delins | 1 | |||
| rs772757329 | 1.000 | 0.120 | 2 | 169487993 | stop gained | C/T | snv | 1.2E-05 | 7.0E-06 | 1 | |
| rs1559121920 | 1.000 | 0.120 | 2 | 169487092 | missense variant | A/G | snv | 1 | |||
| rs767221160 | 1.000 | 2 | 169487103 | stop gained | G/A;T | snv | 1.2E-05; 4.0E-06 | 1 | |||
| rs587777828 | 1.000 | 2 | 169493012 | splice region variant | A/G | snv | 1 | ||||
| rs1559122157 | 1.000 | 2 | 169487857 | splice donor variant | T/C | snv | 1 | ||||
| rs1553529427 | 1.000 | 2 | 169504520 | frameshift variant | -/T | delins | 1 | ||||
| rs1477098739 | 1.000 | 2 | 169487804 | splice acceptor variant | A/G | snv | 1.2E-05 | 7.0E-06 | 1 | ||
| rs121908582 | 1.000 | 2 | 169493765 | missense variant | A/G | snv | 1 |