| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs199422173 | 0.827 | 0.120 | 1 | 197101468 | frameshift variant | CT/- | delins | 2.3E-04 | 1.7E-04 | 7 | |
| rs199422202 | 0.851 | 0.120 | 13 | 24913008 | frameshift variant | G/- | delins | 5 | |||
| rs199422151 | 0.882 | 0.120 | 1 | 197125190 | stop gained | G/A;T | snv | 4.0E-06; 1.6E-05 | 4 | ||
| rs199422152 | 0.882 | 0.120 | 1 | 197125161 | stop gained | C/T | snv | 4 | |||
| rs199422125 | 0.925 | 0.120 | 8 | 6436147 | frameshift variant | -/A | delins | 3 | |||
| rs121434305 | 0.925 | 0.120 | 8 | 6409330 | stop gained | C/G | snv | 1.2E-05 | 2 | ||
| rs201599657 | 1.000 | 0.120 | 8 | 6499860 | stop gained | G/A;T | snv | 1.1E-04 | 1 | ||
| rs1554471681 | 1.000 | 0.120 | 8 | 6406691 | splice donor variant | TGA/- | del | 1 | |||
| rs1488084787 | 1.000 | 0.120 | 8 | 6414797 | missense variant | C/G;T | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs1554496609 | 1.000 | 0.120 | 8 | 6455240 | frameshift variant | -/CA | delins | 1 | |||
| rs387906961 | 1.000 | 0.120 | 8 | 6414865 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 1 | |
| rs541042265 | 1.000 | 0.120 | 8 | 6480712 | splice acceptor variant | A/G | snv | 1.2E-04 | 4.9E-05 | 1 | |
| rs587783733 | 1.000 | 0.120 | 8 | 6414778 | missense variant | T/C | snv | 2.0E-05 | 1 | ||
| rs587783735 | 1.000 | 0.120 | 8 | 6455186 | frameshift variant | AT/- | del | 3.2E-05 | 4.2E-05 | 1 | |
| rs587783741 | 1.000 | 0.120 | 8 | 6431543 | missense variant | C/A;T | snv | 1 | |||
| rs748011724 | 1.000 | 0.120 | 8 | 6445347 | stop gained | T/C;G | snv | 3.2E-05 | 1 | ||
| rs753597039 | 1.000 | 0.120 | 8 | 6439078 | frameshift variant | -/A | delins | 1.2E-05 | 2.1E-05 | 1 | |
| rs755862917 | 1.000 | 0.120 | 8 | 6431567 | stop gained | C/G | snv | 8.1E-06 | 1 | ||
| rs587783739 | 1.000 | 0.120 | 8 | 6642993 | splice acceptor variant | G/A;C | snv | 1.2E-05; 1.2E-05 | 1 |