Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs778068209 | 1.000 | 0.120 | 17 | 80110050 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
| rs777275355 | 1.000 | 0.120 | 17 | 80117015 | frameshift variant | G/-;GG | delins | 8.0E-06 | 1 | ||
| rs776948121 | 0.925 | 0.120 | 17 | 80112928 | missense variant | C/G;T | snv | 1.2E-05 | 1 | ||
| rs772883420 | 1.000 | 0.120 | 17 | 80110730 | missense variant | T/A;C | snv | 1.6E-05 | 1 | ||
| rs770780848 | 1.000 | 0.120 | 17 | 80110841 | splice donor variant | G/C;T | snv | 8.0E-06 | 1 | ||
| rs770610356 | 1.000 | 0.120 | 17 | 80108811 | missense variant | C/T | snv | 4.6E-06 | 3.5E-05 | 1 | |
| rs770590394 | 1.000 | 0.120 | 17 | 80110736 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 1 | |
| rs770276275 | 1.000 | 0.120 | 17 | 80110029 | frameshift variant | GAGA/- | del | 7.0E-06 | 1 | ||
| rs767882689 | 1.000 | 0.120 | 17 | 80105111 | frameshift variant | TG/- | del | 1 | |||
| rs767409395 | 1.000 | 0.120 | 17 | 80104704 | stop gained | C/T | snv | 1.2E-05 | 7.0E-06 | 1 | |
| rs766680292 | 1.000 | 0.120 | 17 | 80110785 | stop gained | G/A | snv | 4.0E-06 | 1 | ||
| rs766074609 | 1.000 | 0.120 | 17 | 80108398 | missense variant | T/C | snv | 8.0E-06 | 1 | ||
| rs765718882 | 0.925 | 0.120 | 17 | 80118668 | stop gained | G/T | snv | 2.0E-05 | 7.0E-06 | 1 | |
| rs764622267 | 0.925 | 0.120 | 17 | 80107718 | missense variant | C/G;T | snv | 5.1E-06; 5.1E-06 | 2 | ||
| rs763359208 | 1.000 | 0.120 | 17 | 80119284 | frameshift variant | GT/- | delins | 1.2E-05 | 1 | ||
| rs762260678 | 1.000 | 0.120 | 17 | 80108467 | intron variant | T/G | snv | 1.6E-05 | 1 | ||
| rs761317813 | 1.000 | 0.120 | 17 | 80104838 | frameshift variant | C/-;CC | delins | 1 | |||
| rs759518659 | 1.000 | 0.120 | 17 | 80112965 | missense variant | C/T | snv | 4.1E-06 | 1 | ||
| rs757700700 | 0.925 | 0.120 | 17 | 80105872 | missense variant | C/T | snv | 2.1E-05 | 1.4E-05 | 1 | |
| rs757458607 | 1.000 | 0.120 | 17 | 80108555 | frameshift variant | C/- | delins | 4.0E-06 | 1 | ||
| rs757111744 | 1.000 | 0.120 | 17 | 80113001 | missense variant | C/T | snv | 8.3E-06 | 1.4E-05 | 1 | |
| rs756024023 | 1.000 | 0.120 | 17 | 80105137 | splice region variant | G/A;T | snv | 8.5E-06; 3.8E-05 | 1 | ||
| rs755253527 | 1.000 | 0.120 | 17 | 80108495 | missense variant | C/G;T | snv | 1.2E-05 | 1 | ||
| rs753269119 | 1.000 | 0.120 | 17 | 80112679 | missense variant | G/A | snv | 1.7E-05 | 1.4E-05 | 1 | |
| rs752921215 | 1.000 | 0.120 | 17 | 80117015 | stop gained | G/A;C;T | snv | 4.0E-06; 6.8E-05; 7.2E-05 | 1 |