| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs587783070 | 0.925 | 0.040 | 1 | 220143109 | missense variant | C/T | snv | 3 | |||
| rs864309688 | 0.882 | 0.200 | 1 | 147908089 | missense variant | G/C | snv | 7.0E-06 | 3 | ||
| rs139787163 | 0.925 | 0.120 | 1 | 16125271 | missense variant | C/T | snv | 4.8E-04 | 3.6E-04 | 2 | |
| rs3754334 | 0.925 | 0.040 | 1 | 16125272 | synonymous variant | G/A | snv | 0.28 | 0.24 | 2 | |
| rs746066696 | 0.925 | 0.080 | 1 | 43949663 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 2 | |
| rs11260867 | 1.000 | 0.040 | 1 | 16115233 | regulatory region variant | C/G | snv | 0.13 | 1 | ||
| rs532063800 | 1.000 | 0.040 | 1 | 9245310 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
| rs543287988 | 1.000 | 0.040 | 1 | 9245277 | missense variant | G/A | snv | 4.4E-05 | 7.0E-06 | 1 | |
| rs749808170 | 1.000 | 0.040 | 1 | 9245103 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
| rs7543472 | 1.000 | 0.040 | 1 | 16113897 | regulatory region variant | C/A;G;T | snv | 1 | |||
| rs28931605 | 0.807 | 0.200 | 2 | 208124294 | missense variant | G/A;T | snv | 4.2E-06; 1.3E-05 | 6 | ||
| rs587778872 | 0.807 | 0.200 | 2 | 208128231 | missense variant | G/A;C | snv | 8.0E-06 | 6 | ||
| rs137853924 | 0.851 | 0.200 | 2 | 208128343 | missense variant | C/A;T | snv | 4 | |||
| rs1463326176 | 0.851 | 0.200 | 2 | 208124291 | frameshift variant | TGGG/- | del | 4 | |||
| rs150857132 | 0.851 | 0.200 | 2 | 208124183 | missense variant | C/A;T | snv | 4.4E-04; 4.0E-06 | 4 | ||
| rs398122944 | 0.851 | 0.200 | 2 | 208128257 | stop gained | C/G;T | snv | 4 | |||
| rs121909595 | 0.925 | 0.040 | 2 | 208124321 | missense variant | G/A | snv | 3 | |||
| rs121909596 | 0.925 | 0.040 | 2 | 208124188 | missense variant | C/T | snv | 3 | |||
| rs121909598 | 0.882 | 0.040 | 2 | 208121728 | stop gained | C/T | snv | 4.0E-06 | 3 | ||
| rs398122392 | 0.882 | 0.040 | 2 | 208128258 | stop gained | C/A;G;T | snv | 2.4E-05; 8.0E-06 | 3 | ||
| rs140372256 | 0.925 | 0.040 | 2 | 208160859 | stop gained | C/A;G;T | snv | 1.5E-04; 1.6E-05; 4.0E-06 | 2 | ||
| rs61751949 | 0.925 | 0.200 | 2 | 208129550 | missense variant | C/T | snv | 1.7E-02 | 1.1E-02 | 2 | |
| rs750872744 | 0.925 | 0.040 | 2 | 208128325 | stop gained | C/A;T | snv | 3.6E-05 | 2 | ||
| rs139609998 | 1.000 | 0.040 | 2 | 208145915 | missense variant | C/A;G | snv | 4.0E-06 | 1 | ||
| rs2289917 | 1.000 | 0.040 | 2 | 208146167 | upstream gene variant | G/A;C | snv | 0.33; 4.0E-06 | 1 |