Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs201422368 | 1.000 | 0.040 | 1 | 111120539 | stop gained | C/T | snv | 3.6E-05 | 3.5E-05 | 2 | |
| rs746559651 | 1.000 | 0.040 | 1 | 111126286 | frameshift variant | C/- | delins | 1.2E-05 | 7.1E-06 | 2 | |
| rs786205661 | 1.000 | 0.040 | 1 | 111131489 | inframe deletion | CAG/- | delins | 2 | |||
| rs786205664 | 1.000 | 0.040 | 1 | 111120671 | missense variant | T/A | snv | 2 | |||
| rs786205665 | 1.000 | 0.040 | 1 | 111131424 | missense variant | C/T | snv | 7.0E-06 | 2 | ||
| rs786205662 | 1.000 | 0.040 | 1 | 111131476 | missense variant | A/G | snv | 1 | |||
| rs786205663 | 1 | 111124856 | inframe deletion | CGAACATAA/- | delins | 1 |