| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs781555217 | 1.000 | 0.080 | 16 | 8781320 | stop gained | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 1 | ||
| rs1567312671 | 1.000 | 0.080 | 16 | 8768227 | missense variant | T/G | snv | 1 | |||
| rs1330995774 | 1.000 | 0.080 | 16 | 8776350 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs1057523345 | 1.000 | 0.080 | 16 | 8781321 | missense variant | G/A | snv | 1 | |||
| rs1555492932 | 1.000 | 0.080 | 16 | 8772778 | splice acceptor variant | A/G | snv | 1 | |||
| rs1555494322 | 1.000 | 0.080 | 16 | 8781387 | missense variant | T/C | snv | 1 | |||
| rs137854497 | 1.000 | 0.120 | 9 | 104804668 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
| rs137854500 | 1.000 | 0.120 | 9 | 104814154 | missense variant | C/T | snv | 2.4E-05 | 1 | ||
| rs137854495 | 1.000 | 0.120 | 9 | 104822514 | missense variant | G/A | snv | 1.2E-05 | 1 | ||
| rs137854501 | 1.000 | 0.120 | 9 | 104786940 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
| rs28937314 | 1.000 | 0.120 | 9 | 104822521 | missense variant | T/C;G | snv | 1 | |||
| rs137854494 | 1.000 | 0.120 | 9 | 104806276 | missense variant | A/G | snv | 7.0E-06 | 1 | ||
| rs1554714092 | 1.000 | 0.120 | 9 | 104822599 | frameshift variant | G/- | delins | 1 | |||
| rs387906414 | 1.000 | 0.120 | 9 | 104818781 | frameshift variant | AG/- | delins | 7.0E-06 | 1 | ||
| rs796051873 | 1.000 | 0.120 | 9 | 104831740 | stop gained | AGAACTTCCTCTCA/GTACAGTGGCGTGACCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATT;GTACAGTGGCGTGACCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCTCCTGCCACCACGCCCG | delins | 1 | |||
| rs28937313 | 0.882 | 0.160 | 9 | 104822520 | missense variant | T/C | snv | 8.0E-06 | 1 | ||
| rs796051872 | 1.000 | 0.120 | 9 | 104816142 | splice donor variant | C/G | snv | 1 | |||
| rs387906413 | 1.000 | 0.120 | 9 | 104830993 | frameshift variant | C/- | del | 1 | |||
| rs137854502 | 1.000 | 0.120 | 9 | 104831098 | stop gained | G/T | snv | 1 | |||
| rs2853578 | 1.000 | 0.120 | 9 | 104831027 | missense variant | T/A;C | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs760507032 | 1.000 | 0.080 | 9 | 104796354 | missense variant | G/C | snv | 2.8E-05 | 1.4E-05 | 1 | |
| rs137854498 | 1.000 | 0.120 | 9 | 104798504 | missense variant | G/A;T | snv | 8.0E-06; 8.0E-06 | 1 | ||
| rs11891778 | 0.882 | 0.120 | 2 | 215045850 | stop gained | G/A;C;T | snv | 4.0E-06; 9.2E-03 | 5 | ||
| rs758568142 | 0.925 | 0.120 | 2 | 215019335 | splice donor variant | C/A;T | snv | 4.0E-06 | 4 | ||
| rs28940269 | 0.925 | 0.080 | 2 | 214986566 | missense variant | T/C | snv | 4.8E-05 | 4.2E-05 | 2 |