Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs56268439 | 1.000 | 0.080 | X | 154030639 | stop gained | C/A;T | snv | 5.8E-06; 5.8E-06; 2.2E-03 | 1 | ||
| rs61749739 | 1.000 | 0.080 | X | 154031142 | stop gained | G/A;T | snv | 1.6E-04 | 1 | ||
| rs63094662 | 0.925 | 0.080 | X | 154030648 | stop gained | C/A;T | snv | 8.7E-05; 4.1E-05 | 2 | ||
| rs61754441 | 1.000 | 0.080 | X | 154032369 | frameshift variant | G/-;GG | delins | 1.1E-05; 2.2E-05 | 1 | ||
| rs61749709 | 1.000 | 0.080 | X | 154031260 | frameshift variant | -/T | delins | 2.2E-05 | 1 | ||
| rs61753011 | 1.000 | 0.080 | X | 154030633 | frameshift variant | -/A | ins | 1.7E-05 | 1 | ||
| rs267608569 | 1.000 | 0.080 | X | 154030710 | stop gained | G/C;T | snv | 1.7E-05 | 1 | ||
| rs61753965 | 0.925 | 0.080 | X | 154030612 | stop gained | G/A | snv | 1.7E-05 | 2 | ||
| rs267608465 | 1.000 | 0.080 | X | 154031453 | splice region variant | G/A;C;T | snv | 1.7E-05; 5.5E-06 | 1 | ||
| rs61751362 | 0.790 | 0.160 | X | 154030948 | stop gained | G/A;C | snv | 1.6E-05 | 8 | ||
| rs267608584 | 1.000 | 0.080 | X | 154030670 | frameshift variant | -/AG | delins | 1.2E-05 | 1 | ||
| rs267608613 | 1.000 | 0.080 | X | 154030627 | frameshift variant | -/G | delins | 5.7E-06; 1.1E-05 | 1 | ||
| rs267608614 | 1.000 | 0.080 | X | 154030625 | frameshift variant | -/C | delins | 1.1E-05; 5.7E-06; 5.7E-06 | 1 | ||
| rs267608525 | 1.000 | 0.080 | X | 154031044 | stop gained | G/A;C | snv | 1.1E-05 | 1 | ||
| rs267608612 | 1.000 | 0.080 | X | 154030630 | frameshift variant | -/G | delins | 5.7E-06 | 1 | ||
| rs267608416 | 1.000 | 0.080 | X | 154032533 | frameshift variant | -/T | delins | 5.6E-06 | 1 | ||
| rs28934908 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 12 | ||
| rs61750240 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 17 | ||
| rs179363900 | 0.807 | 0.080 | X | 154031374 | missense variant | G/C | snv | 5.5E-06 | 1.9E-05 | 6 | |
| rs61754431 | 1.000 | 0.080 | X | 154032443 | frameshift variant | -/T | delins | 5.5E-06 | 1 | ||
| rs61748425 | 1.000 | 0.080 | X | 154031320 | stop gained | G/A;C | snv | 5.5E-06 | 1 | ||
| rs267608438 | 1.000 | 0.080 | X | 154032381 | stop gained | G/A;C | snv | 5.5E-06 | 1 | ||
| rs61749717 | 1.000 | 0.080 | X | 154031236 | stop gained | T/A;G | snv | 5.5E-06 | 1 | ||
| rs61751361 | 1.000 | 0.080 | X | 154030953 | frameshift variant | -/T | ins | 5.5E-06 | 1 | ||
| rs786205025 | 1.000 | 0.080 | X | 154032262 | frameshift variant | -/TTCC | delins | 5.5E-06 | 1 |