| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs759376012 | 1.000 | 0.120 | 9 | 116698849 | frameshift variant | A/- | delins | 1.6E-05 | 1 | ||
| rs113994178 | 1.000 | 0.120 | 11 | 66510646 | start lost | AAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCG/- | delins | 1 | |||
| rs1555047409 | 1.000 | 0.120 | 11 | 66519618 | splice acceptor variant | GTCA/- | delins | 1 | |||
| rs747229370 | 1.000 | 0.120 | 11 | 66514527 | start lost | T/C | snv | 1.2E-05 | 1 | ||
| rs772917364 | 1.000 | 0.120 | 11 | 66510705 | missense variant | A/T | snv | 4.0E-06 | 1 | ||
| rs786204444 | 1.000 | 0.120 | 11 | 66515543 | stop gained | C/T | snv | 8.0E-06 | 1.4E-05 | 1 | |
| rs878855095 | 1.000 | 0.120 | 11 | 66514662 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs1060500996 | 1.000 | 0.120 | 12 | 76347724 | frameshift variant | ATAAA/- | delins | 1 | |||
| rs1340165752 | 1.000 | 0.120 | 12 | 76346842 | stop gained | A/C | snv | 4.0E-06 | 1 | ||
| rs1555202695 | 1.000 | 0.120 | 12 | 76347338 | frameshift variant | -/C | delins | 1 | |||
| rs1565809478 | 1.000 | 0.120 | 12 | 76346308 | stop gained | -/T | delins | 1 | |||
| rs1565809597 | 1.000 | 0.120 | 12 | 76346530 | frameshift variant | TTTG/- | delins | 1 | |||
| rs1565809867 | 1.000 | 0.120 | 12 | 76346986 | stop gained | A/T | snv | 1 | |||
| rs1565809995 | 1.000 | 0.120 | 12 | 76347261 | frameshift variant | G/- | del | 1 | |||
| rs1565810301 | 1.000 | 0.120 | 12 | 76347787 | missense variant | C/A;T | snv | 1 | |||
| rs767572725 | 1.000 | 0.120 | 12 | 76346910 | stop gained | G/A;C | snv | 4.0E-06; 1.8E-04 | 1 | ||
| rs771325212 | 1.000 | 0.120 | 12 | 76347023 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
| rs781421232 | 1.000 | 0.120 | 12 | 76347424 | inframe deletion | GAT/- | delins | 4.0E-06 | 1 | ||
| rs1339432710 | 1.000 | 0.120 | 4 | 122742561 | frameshift variant | -/A | delins | 4.0E-06 | 1 | ||
| rs1381368546 | 1.000 | 0.120 | 4 | 122741996 | stop gained | C/A | snv | 1.2E-05 | 1 | ||
| rs565073445 | 1.000 | 0.120 | 4 | 122741957 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 | 1 | |
| rs746478265 | 1.000 | 0.120 | 4 | 122743945 | frameshift variant | ACAG/- | delins | 1 | |||
| rs767068756 | 1.000 | 0.120 | 4 | 122742947 | missense variant | A/C;G | snv | 4.8E-05 | 1 | ||
| rs1160669210 | 1.000 | 0.120 | 11 | 66526189 | stop gained | C/T | snv | 7.0E-06 | 1 | ||
| rs1486200900 | 1.000 | 0.120 | 11 | 66529956 | splice region variant | A/G | snv | 7.0E-06 | 1 |