| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs587777590 | 1.000 | 6 | 44313175 | missense variant | A/C | snv | 1 | ||||
| rs146512155 | 1.000 | 6 | 44305099 | missense variant | C/G;T | snv | 2.8E-04; 3.2E-05 | 1 | |||
| rs587777592 | 1.000 | 6 | 44306367 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 1 | ||
| rs543267101 | 1.000 | 6 | 44300612 | missense variant | C/T | snv | 4.0E-05 | 4.2E-05 | 1 | ||
| rs587777121 | 1.000 | 0.120 | 7 | 122077833 | splice donor variant | CTTAC/AA | delins | 1 | |||
| rs587777126 | 1.000 | 0.120 | 7 | 122113140 | missense variant | A/C | snv | 4.0E-06 | 1 | ||
| rs587777123 | 1.000 | 0.120 | 7 | 122115140 | frameshift variant | TG/- | del | 4.0E-06 | 1 | ||
| rs587777122 | 1.000 | 0.120 | 7 | 122116653 | missense variant | T/C | snv | 1.2E-05 | 1 | ||
| rs587777124 | 1.000 | 0.120 | 7 | 122091794 | stop gained | G/C | snv | 1 | |||
| rs587777125 | 1.000 | 0.120 | 7 | 122133533 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 1 | |
| rs387906333 | 1.000 | 0.120 | 7 | 122098496 | stop gained | CTTGTTTAC/- | del | 1 | |||
| rs1567310537 | 1.000 | 0.080 | 16 | 8764744 | missense variant | C/T | snv | 1 | |||
| rs1567300736 | 1.000 | 0.080 | 16 | 8746099 | splice donor variant | G/A | snv | 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 | |
| rs1555492932 | 1.000 | 0.080 | 16 | 8772778 | splice acceptor variant | A/G | snv | 1 | |||
| rs781555217 | 1.000 | 0.080 | 16 | 8781320 | stop gained | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 1 | ||
| rs1057523345 | 1.000 | 0.080 | 16 | 8781321 | missense variant | G/A | 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 |