| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs386833760 | 0.790 | 0.360 | 4 | 15587929 | splice donor variant | G/- | delins | 1.9E-04 | 11 | ||
| rs386833750 | 0.807 | 0.360 | 4 | 15563485 | stop gained | C/A;G;T | snv | 2.0E-05; 2.0E-05 | 6 | ||
| rs370880399 | 0.827 | 0.360 | 4 | 15563395 | stop gained | C/T | snv | 1.0E-04 | 1.0E-04 | 5 | |
| rs781252161 | 0.827 | 0.360 | 4 | 15533284 | stop gained | C/T | snv | 1.8E-05 | 7.0E-06 | 5 | |
| rs386833751 | 0.851 | 0.320 | 4 | 15567676 | splice acceptor variant | G/- | delins | 4 | |||
| rs386833759 | 0.851 | 0.320 | 4 | 15580171 | splice region variant | AGTA/- | delins | 7.0E-06 | 4 | ||
| rs1560184664 | 0.882 | 0.360 | 4 | 15563461 | frameshift variant | TA/- | delins | 3 | |||
| rs200407856 | 0.882 | 0.320 | 4 | 15516005 | splice donor variant | G/A | snv | 4.7E-05 | 7.7E-05 | 3 | |
| rs201502401 | 0.882 | 0.320 | 4 | 15599699 | missense variant | A/T | snv | 2.0E-04 | 2.0E-04 | 3 | |
| rs764719093 | 0.882 | 0.360 | 4 | 15557361 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06; 4.0E-06 | 3 | ||
| rs797045437 | 0.882 | 0.320 | 4 | 15597432 | frameshift variant | GACA/- | delins | 3 | |||
| rs118204052 | 0.925 | 0.360 | 4 | 15599614 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 2 | |
| rs267606709 | 0.925 | 0.360 | 4 | 15567735 | missense variant | C/T | snv | 3.8E-05 | 5.6E-05 | 2 | |
| rs386833752 | 0.925 | 0.320 | 4 | 15567729 | missense variant | C/T | snv | 3.8E-05 | 2.8E-05 | 2 | |
| rs386833755 | 0.925 | 0.320 | 4 | 15570446 | missense variant | T/C | snv | 3.3E-05 | 2.1E-05 | 2 | |
| rs386833757 | 0.925 | 0.320 | 4 | 15579967 | frameshift variant | -/T | delins | 2 | |||
| rs118204051 | 1.000 | 0.320 | 4 | 15567752 | missense variant | C/T | snv | 4.3E-06 | 1 | ||
| rs118204053 | 1.000 | 0.320 | 4 | 15559183 | stop gained | C/G;T | snv | 6.2E-06 | 1 | ||
| rs1392635342 | 1.000 | 0.320 | 4 | 15511290 | frameshift variant | -/TA | delins | 4.3E-06 | 1 | ||
| rs144439937 | 1.000 | 0.320 | 4 | 15533245 | missense variant | A/G | snv | 6.4E-03 | 6.4E-03 | 1 | |
| rs1473532901 | 1.000 | 0.320 | 4 | 15567764 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
| rs1478902342 | 1.000 | 0.320 | 4 | 15599591 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
| rs186264635 | 1.000 | 0.320 | 4 | 15502836 | missense variant | T/C;G | snv | 4.1E-06; 1.3E-03 | 1 | ||
| rs199768782 | 1.000 | 0.320 | 4 | 15540994 | missense variant | C/A;T | snv | 6.4E-06; 2.4E-03 | 1 | ||
| rs200904521 | 1.000 | 0.320 | 4 | 15555209 | stop gained | C/A;T | snv | 8.1E-05 | 1 |