| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1555528357 | 1.000 | 16 | 89282837 | frameshift variant | ATTT/- | delins | 2 | ||||
| rs1555529297 | 1.000 | 16 | 89284412 | stop gained | C/T | snv | 2 | ||||
| rs1555529572 | 1.000 | 16 | 89284912 | frameshift variant | GTGCTGGT/- | delins | 2 | ||||
| rs1555529645 | 0.925 | 0.280 | 16 | 89285079 | frameshift variant | CT/- | delins | 2 | |||
| rs886041791 | 0.925 | 0.280 | 16 | 89284345 | stop gained | G/A;T | snv | 2 | |||
| rs1555524861 | 1.000 | 16 | 89279215 | stop gained | G/A | snv | 1 | ||||
| rs1555526796 | 1.000 | 16 | 89281005 | frameshift variant | A/- | delins | 1 | ||||
| rs1555527497 | 1.000 | 16 | 89281640 | frameshift variant | A/- | del | 1 | ||||
| rs1555529052 | 1.000 | 16 | 89284048 | frameshift variant | T/- | del | 1 | ||||
| rs1555529726 | 1.000 | 16 | 89285153 | frameshift variant | T/- | delins | 1 | ||||
| rs1555529734 | 1.000 | 16 | 89285160 | frameshift variant | CT/- | delins | 1 | ||||
| rs1555904596 | 1.000 | X | 8731936 | frameshift variant | -/AGCAGCCGCGC | delins | 2 | ||||
| rs1553259463 | 1.000 | 1 | 113901815 | stop gained | GACAT/- | delins | 2 | ||||
| rs1335804396 | 1.000 | 14 | 31066213 | missense variant | T/C | snv | 7.0E-06 | 1 | |||
| rs568176223 | 1.000 | 14 | 31072908 | stop gained | G/A;T | snv | 3.2E-05 | 1.4E-05 | 1 | ||
| rs1554236054 | 1.000 | 6 | 157201481 | frameshift variant | -/G | delins | 3 | ||||
| rs1554237658 | 0.925 | 0.280 | 6 | 157206917 | stop gained | C/T | snv | 3 | |||
| rs1554256703 | 0.925 | 0.280 | 6 | 156829302 | stop gained | C/T | snv | 3 | |||
| rs1554226131 | 1.000 | 6 | 157148899 | frameshift variant | -/A | delins | 2 | ||||
| rs1554234424 | 1.000 | 6 | 157196295 | stop gained | T/A | snv | 2 | ||||
| rs1554237848 | 1.000 | 6 | 157207180 | stop gained | G/A | snv | 2 | ||||
| rs1554247637 | 1.000 | 6 | 156778646 | frameshift variant | TGCGAGCGGCGGCC/G | delins | 2 | ||||
| rs201653711 | 0.925 | 0.280 | 6 | 156871638 | stop gained | G/T | snv | 1.2E-05 | 7.0E-06 | 2 | |
| rs758570139 | 1.000 | 6 | 157181016 | stop gained | C/G;T | snv | 2.8E-05 | 2 | |||
| rs1554235792 | 1.000 | 6 | 157201064 | stop gained | C/G | snv | 1 |