| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121912708 | 1.000 | 0.040 | 5 | 126583997 | stop gained | G/A;C | snv | 6.0E-05; 4.0E-06 | 3 | ||
| rs200661329 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 48 | ||
| rs768407867 | 0.925 | 0.160 | 2 | 174748177 | missense variant | C/T | snv | 4.4E-05 | 3.5E-05 | 3 | |
| rs142239530 | 0.790 | 0.320 | 11 | 4091328 | missense variant | C/G;T | snv | 4.4E-05 | 24 | ||
| rs145999922 | 0.882 | 0.040 | 2 | 227699378 | missense variant | A/G | snv | 4.4E-05 | 4.2E-05 | 4 | |
| rs398122917 | 0.882 | 0.080 | X | 155280059 | missense variant | G/C | snv | 4.4E-05 | 1.1E-04 | 1 | |
| rs550423482 | 0.882 | 0.160 | 17 | 47946670 | missense variant | G/A;T | snv | 4.0E-05 | 5 | ||
| rs778573169 | 1.000 | 0.080 | 15 | 89319225 | splice region variant | T/A;C | snv | 4.0E-05 | 2 | ||
| rs61753219 | 0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 | 64 | |
| rs121918735 | 1.000 | 0.040 | 2 | 166051906 | missense variant | G/A;T | snv | 3.2E-05 | 2 | ||
| rs534517447 | 0.925 | 0.160 | 11 | 120956935 | missense variant | G/A | snv | 2.9E-05 | 7.0E-06 | 4 | |
| rs373345919 | 0.882 | 0.080 | 17 | 42909364 | stop gained | C/T | snv | 2.8E-05 | 2.8E-05 | 1 | |
| rs80358284 | 0.790 | 0.240 | 11 | 86952443 | missense variant | T/A;C | snv | 4.0E-06; 2.4E-05 | 10 | ||
| rs775835429 | 0.925 | 0.040 | 2 | 227702236 | frameshift variant | -/TC | delins | 2.4E-05 | 2.1E-05 | 4 | |
| rs760474458 | 0.882 | 0.280 | 16 | 2496267 | missense variant | G/A;C;T | snv | 4.0E-06; 2.0E-05; 4.0E-06 | 9 | ||
| rs386834034 | 0.790 | 0.240 | 1 | 46194853 | stop gained | G/A;T | snv | 2.0E-05 | 9 | ||
| rs771882905 | 1.000 | 20 | 18162673 | missense variant | G/A | snv | 2.0E-05 | 2.8E-05 | 2 | ||
| rs368435864 | 1.000 | 0.080 | 15 | 89318736 | missense variant | C/A;T | snv | 1.2E-05; 2.0E-05 | 2 | ||
| rs267607235 | 1.000 | 0.120 | 4 | 127921639 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 2 | |
| rs878853282 | 1.000 | 9 | 109141466 | inframe deletion | CCT/- | delins | 2.0E-05 | 2.7E-04 | 4 | ||
| rs140845195 | 1.000 | 0.040 | 5 | 126545020 | splice acceptor variant | C/A;T | snv | 1.6E-05; 4.0E-06 | 3 | ||
| rs368001837 | 0.851 | 0.080 | 7 | 66638895 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 | 1 | |
| rs773770609 | 1.000 | 17 | 6695784 | stop gained | G/A | snv | 1.6E-05 | 3.5E-05 | 2 | ||
| rs781417096 | 0.807 | 0.200 | 6 | 87514995 | frameshift variant | T/- | delins | 1.6E-05 | 7.0E-06 | 9 | |
| rs752134549 | 0.827 | 0.200 | 12 | 122517404 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 6 |