| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs80338902 | 0.790 | 0.200 | 1 | 216247118 | missense variant | C/A | snv | 9.7E-04 | 1.3E-03 | 6 | |
| rs121908179 | 0.827 | 0.120 | 16 | 56514487 | missense variant | T/G | snv | 4.4E-05 | 2.8E-05 | 5 | |
| rs749974697 | 0.851 | 0.240 | 7 | 33152851 | stop gained | C/A;T | snv | 4.0E-06; 1.6E-05 | 5 | ||
| rs773372123 | 0.851 | 0.160 | 16 | 1587209 | missense variant | C/T | snv | 2.0E-05 | 5 | ||
| rs386834261 | 0.882 | 0.080 | 14 | 67729337 | frameshift variant | CCCTG/- | delins | 9.1E-05 | 5 | ||
| rs29001566 | 0.807 | 0.080 | 3 | 129533711 | missense variant | C/A;G;T | snv | 5 | |||
| rs397515359 | 0.827 | 0.200 | 11 | 17531408 | frameshift variant | -/G | delins | 1.8E-04 | 5 | ||
| rs397518039 | 0.851 | 0.200 | 1 | 215877882 | splice acceptor variant | T/C | snv | 3.2E-05 | 5 | ||
| rs786200928 | 0.827 | 0.200 | 1 | 215891198 | intron variant | T/C | snv | 4.2E-05 | 5 | ||
| rs201471607 | 0.851 | 0.080 | 1 | 94046943 | missense variant | T/C | snv | 1.4E-04 | 7.7E-05 | 4 | |
| rs138043021 | 0.851 | 0.120 | 16 | 56496982 | missense variant | C/G;T | snv | 1.2E-04; 2.0E-05 | 4 | ||
| rs111033258 | 0.851 | 0.200 | 3 | 150972565 | missense variant | A/C | snv | 2.7E-04 | 1.5E-04 | 4 | |
| rs62625014 | 0.851 | 0.080 | 4 | 47937535 | missense variant | G/A;C | snv | 1.1E-03; 2.4E-05 | 4 | ||
| rs137853137 | 0.882 | 0.080 | 1 | 197427726 | stop gained | A/T | snv | 5.2E-05 | 1.3E-04 | 4 | |
| rs62635654 | 0.851 | 0.080 | 1 | 197427615 | missense variant | C/G;T | snv | 4.0E-06; 7.6E-05 | 4 | ||
| rs200691042 | 0.851 | 0.080 | 2 | 61839695 | stop gained | T/A | snv | 2.8E-04 | 2.9E-04 | 4 | |
| rs112029032 | 0.882 | 0.160 | 8 | 43199504 | missense variant | G/A | snv | 4.1E-03 | 3.6E-03 | 4 | |
| rs35689081 | 0.851 | 0.200 | 11 | 77142783 | stop gained | C/A;T | snv | 3.7E-05; 3.6E-03 | 4 | ||
| rs28937873 | 0.807 | 0.160 | 15 | 71813573 | missense variant | G/A | snv | 4.0E-04 | 3.1E-04 | 4 | |
| rs111033260 | 0.790 | 0.200 | 10 | 54317414 | stop gained | G/A;T | snv | 2.2E-04; 4.0E-06 | 4 | ||
| rs543698823 | 0.882 | 0.080 | 4 | 16006637 | frameshift variant | -/A | delins | 2.2E-04 | 2.1E-04 | 4 | |
| rs121918563 | 0.827 | 0.120 | 6 | 42721781 | missense variant | A/G | snv | 8.0E-06 | 1.4E-05 | 4 | |
| rs104893793 | 0.851 | 0.080 | 3 | 129531005 | missense variant | C/A;T | snv | 4.0E-06 | 4 | ||
| rs201527662 | 0.827 | 0.200 | 1 | 216246592 | missense variant | A/C | snv | 2.1E-04 | 6.3E-05 | 4 | |
| rs368049814 | 0.851 | 0.200 | 1 | 215786715 | missense variant | C/T | snv | 3.6E-05 | 7.7E-05 | 4 |