| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121908572 | 0.882 | 0.280 | 2 | 218661283 | missense variant | C/T | snv | 4 | |||
| rs1365700579 | 12 | 32750105 | missense variant | C/G;T | snv | 8.0E-06 | 1 | ||||
| rs775256289 | 12 | 32750046 | inframe insertion | -/TGATCAGACATGACCTCC | delins | 1.6E-05 | 1 | ||||
| rs515726180 | 8 | 102238827 | splice region variant | C/T | snv | 8.0E-06 | 2.1E-05 | 1 | |||
| rs368849022 | 12 | 104327633 | synonymous variant | T/C | snv | 1.2E-04 | 9.8E-05 | 1 | |||
| rs1554887213 | 1.000 | 0.200 | 10 | 100989774 | splice acceptor variant | G/T | snv | 2 | |||
| rs1554887222 | 10 | 100989791 | missense variant | T/C | snv | 1 | |||||
| rs199474657 | 0.752 | 0.360 | MT | 3243 | non coding transcript exon variant | A/G | snv | 15 | |||
| rs118192098 | 0.851 | 0.200 | MT | 8344 | non coding transcript exon variant | A/G | snv | 5 | |||
| rs121434453 | 0.882 | 0.320 | MT | 14709 | non coding transcript exon variant | T/C | snv | 4 | |||
| rs199730889 | 1.000 | 3 | 101565323 | missense variant | G/A;T | snv | 4.0E-06; 1.1E-04 | 2 | |||
| rs875989831 | 1.000 | 3 | 101565595 | missense variant | A/G | snv | 2 | ||||
| rs376902371 | 1.000 | 17 | 18308367 | missense variant | T/C | snv | 6.4E-05 | 3.5E-05 | 2 | ||
| rs200944917 | 17 | 18305208 | stop gained | G/A;T | snv | 1.0E-04 | 1 | ||||
| rs886037835 | 1.000 | 11 | 85635669 | frameshift variant | A/- | delins | 2 | ||||
| rs369227537 | 1.000 | 0.080 | 16 | 89550502 | stop gained | A/T | snv | 1.4E-04 | 9.8E-05 | 2 | |
| rs797046003 | 1.000 | 0.080 | 16 | 89529575 | splice donor variant | -/T | delins | 2 | |||
| rs1023075742 | 1.000 | 22 | 42090742 | start lost | C/T | snv | 4.0E-06 | 2.1E-05 | 2 | ||
| rs763006208 | 1.000 | 22 | 42086261 | frameshift variant | A/- | delins | 1.1E-04 | 2 | |||
| rs781099275 | 1.000 | 22 | 42086215 | frameshift variant | G/- | delins | 4.0E-06 | 2 | |||
| rs886041081 | 0.925 | 4 | 185144891 | missense variant | G/A | snv | 4 | ||||
| rs886041082 | 1.000 | 4 | 185145863 | missense variant | C/G | snv | 2 | ||||
| rs515726199 | 1.000 | 0.200 | 8 | 102208239 | frameshift variant | A/- | delins | 2 | |||
| rs115079861 | 1.000 | 6 | 151405236 | stop lost | C/G;T | snv | 2.0E-05; 4.0E-03 | 3 | |||
| rs144972972 | 1.000 | 6 | 151430154 | missense variant | T/C | snv | 2.0E-04 | 2.4E-04 | 2 |