| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs387906315 | 0.790 | 0.160 | 1 | 155240660 | frameshift variant | -/C | delins | 5.2E-05 | 5.6E-05 | 8 | |
| rs80356760 | 1.000 | 0.120 | 1 | 155240651 | frameshift variant | -/C | ins | 1 | |||
| rs1553217314 | 1.000 | 0.120 | 1 | 155236440 | frameshift variant | A/- | del | 1 | |||
| rs1450426641 | 0.851 | 0.160 | 1 | 155235820 | missense variant | A/C | snv | 4.0E-06 | 4 | ||
| rs28940279 | 0.851 | 0.120 | 17 | 3499000 | missense variant | A/C | snv | 4.3E-04 | 2.7E-04 | 4 | |
| rs367968666 | 0.882 | 0.120 | 1 | 155237458 | missense variant | A/C | snv | 2.4E-04 | 1.6E-04 | 3 | |
| rs878853318 | 1.000 | 0.120 | 1 | 155240026 | missense variant | A/C | snv | 1 | |||
| rs421016 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 30 | ||
| rs381737 | 0.851 | 0.120 | 1 | 155238141 | missense variant | A/C;T | snv | 4.0E-06; 4.4E-05 | 4 | ||
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs1064644 | 0.807 | 0.120 | 1 | 155238192 | missense variant | A/G | snv | 8.0E-06 | 6 | ||
| rs61748906 | 0.851 | 0.120 | 1 | 155238228 | missense variant | A/G | snv | 8.0E-06 | 2.8E-05 | 4 | |
| rs1004474938 | 1.000 | 0.120 | 7 | 18647924 | missense variant | A/G | snv | 8.1E-06 | 4.2E-05 | 1 | |
| rs11986414 | 1.000 | 0.120 | 8 | 1798784 | intron variant | A/G | snv | 0.27 | 1 | ||
| rs79945741 | 1.000 | 0.120 | 1 | 155238139 | missense variant | A/G;T | snv | 4.0E-06 | 1 | ||
| rs80356768 | 0.882 | 0.120 | 1 | 155235750 | frameshift variant | ACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGG/- | delins | 3 | |||
| rs749714463 | 1.000 | 0.120 | 1 | 155238299 | frameshift variant | AG/- | del | 1 | |||
| rs80356769 | 0.776 | 0.160 | 1 | 155235772 | missense variant | C/A | snv | 3.2E-05 | 7.0E-06 | 8 | |
| rs758199528 | 1.000 | 0.120 | 1 | 203225870 | missense variant | C/A | snv | 2.0E-05 | 1.4E-05 | 1 | |
| rs104886460 | 0.776 | 0.160 | 1 | 155240629 | splice donor variant | C/A;T | snv | 7.6E-05 | 8 | ||
| rs80356763 | 0.882 | 0.120 | 1 | 155238596 | missense variant | C/A;T | snv | 4.0E-06; 2.4E-05 | 3 | ||
| rs989639224 | 0.882 | 0.160 | 11 | 6391753 | missense variant | C/A;T | snv | 4.1E-06; 4.1E-06 | 3 | ||
| rs149171124 | 1.000 | 0.120 | 1 | 155235790 | stop gained | C/A;T | snv | 1.7E-04 | 1 | ||
| rs375340325 | 1.000 | 0.120 | X | 84344426 | missense variant | C/A;T | snv | 9.6E-06 | 1 | ||
| rs1064651 | 0.732 | 0.360 | 1 | 155235727 | missense variant | C/G | snv | 1.3E-04 | 2.0E-04 | 13 |