| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs587779768 | 0.851 | 0.200 | 1 | 27549569 | frameshift variant | G/- | delins | 7 | |||
| rs80356730 | 0.807 | 0.120 | 1 | 11022418 | missense variant | A/G | snv | 8.0E-06 | 7 | ||
| rs869312821 | 0.882 | 0.120 | 1 | 1806515 | missense variant | T/C | snv | 7 | |||
| rs61751035 | 0.882 | 0.160 | 1 | 213242186 | missense variant | G/A | snv | 2.4E-05 | 1.4E-05 | 6 | |
| rs730882203 | 0.851 | 0.080 | 1 | 46510953 | missense variant | C/T | snv | 6 | |||
| rs869312826 | 0.882 | 0.080 | 1 | 1787378 | missense variant | C/T | snv | 6 | |||
| rs1057518821 | 1.000 | 1 | 42930671 | frameshift variant | -/C | delins | 5 | ||||
| rs1557644984 | 0.925 | 0.080 | 1 | 42927622 | missense variant | A/G | snv | 5 | |||
| rs1557607997 | 0.925 | 0.160 | 1 | 45508296 | frameshift variant | -/C | delins | 4 | |||
| rs571640983 | 0.925 | 1 | 39967913 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 4 | |||
| rs730882223 | 0.851 | 0.120 | 1 | 184054736 | missense variant | T/G | snv | 4 | |||
| rs747506979 | 0.882 | 0.160 | 1 | 155235003 | missense variant | G/A | snv | 1.2E-05 | 4 | ||
| rs758432471 | 0.925 | 1 | 1806513 | missense variant | C/T | snv | 7.0E-06 | 4 | |||
| rs1557714302 | 0.925 | 0.120 | 1 | 40092486 | stop gained | A/C | snv | 3 | |||
| rs192669225 | 0.925 | 0.040 | 1 | 109628692 | missense variant | G/A | snv | 3 | |||
| rs367619008 | 0.925 | 0.080 | 1 | 97828160 | missense variant | T/C | snv | 3.2E-05 | 3.5E-05 | 3 | |
| rs746536347 | 0.882 | 0.040 | 1 | 1490639 | missense variant | C/T | snv | 2.6E-05 | 3.5E-05 | 3 | |
| rs561330579 | 1.000 | 1 | 109258951 | missense variant | C/G;T | snv | 7.3E-05 | 2 | |||
| rs1553621496 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 53 | |||
| rs1553655558 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 43 | |||
| rs559979281 | 0.742 | 0.440 | 2 | 121530892 | non coding transcript exon variant | C/G;T | snv | 7.7E-06; 2.3E-05; 3.5E-04 | 23 | ||
| rs863225422 | 0.742 | 0.440 | 2 | 121530927 | non coding transcript exon variant | G/A | snv | 4.6E-05; 7.7E-06 | 4.9E-05 | 23 | |
| rs527656756 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 21 | |
| rs1558939623 | 0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv | 19 | |||
| rs1064795104 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 17 |