| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs397516059 | 0.851 | 0.080 | 11 | 47349876 | frameshift variant | -/A | delins | 8.2E-06 | 5 | ||
| rs397515966 | 0.925 | 0.080 | 11 | 47337502 | frameshift variant | -/A | delins | 4.0E-06; 1.2E-05 | 7.0E-06 | 2 | |
| rs397515970 | 0.925 | 0.080 | 11 | 47337468 | frameshift variant | -/A | delins | 2 | |||
| rs397516008 | 0.925 | 0.080 | 11 | 47333297 | frameshift variant | -/A | ins | 7.0E-06 | 2 | ||
| rs730880341 | 0.925 | 0.080 | 11 | 47337708 | frameshift variant | -/A | delins | 2 | |||
| rs397515944 | 1.000 | 0.040 | 11 | 47339677 | frameshift variant | -/A | delins | 4.1E-06 | 1 | ||
| rs727503209 | 1.000 | 0.040 | 11 | 47346303 | frameshift variant | -/A | delins | 1 | |||
| rs730880335 | 1.000 | 0.040 | 11 | 47350574 | frameshift variant | -/A | delins | 1 | |||
| rs730880361 | 1.000 | 0.040 | 11 | 47332241 | frameshift variant | -/A | delins | 1 | |||
| rs786204329 | 0.925 | 0.080 | 11 | 47348494 | frameshift variant | -/AAGGCAGGCTGGGCATCGGTGATGTG | delins | 2 | |||
| rs730880337 | 1.000 | 0.040 | 11 | 47332968 | splice acceptor variant | -/ACTC | delins | 1 | |||
| rs1555123633 | 1.000 | 0.040 | 11 | 47350599 | frameshift variant | -/ATGG | delins | 1 | |||
| rs397515963 | 0.851 | 0.080 | 11 | 47337729 | frameshift variant | -/C | delins | 2.1E-05 | 4 | ||
| rs397515960 | 0.925 | 0.080 | 11 | 47337791 | frameshift variant | -/C | delins | 3 | |||
| rs397516014 | 0.925 | 0.080 | 11 | 47333226 | frameshift variant | -/C | delins | 1.4E-05 | 2 | ||
| rs727503174 | 0.925 | 0.080 | 11 | 47333580 | frameshift variant | -/C | delins | 2 | |||
| rs876657703 | 0.925 | 0.080 | 11 | 47342842 | frameshift variant | -/C | delins | 2 | |||
| rs1060501479 | 1.000 | 0.040 | 11 | 47351465 | frameshift variant | -/C | ins | 1 | |||
| rs1565628078 | 1.000 | 0.040 | 11 | 47342893 | frameshift variant | -/C | delins | 1 | |||
| rs730880672 | 1.000 | 0.040 | 11 | 47333202 | frameshift variant | -/C | delins | 1 | |||
| rs193922384 | 0.882 | 0.080 | 11 | 47332126 | inframe insertion | -/CAGACATAGATGCCCCCG | delins | 2.8E-05 | 3 | ||
| rs730880362 | 1.000 | 0.040 | 11 | 47351315 | frameshift variant | -/CC | delins | 4.9E-06; 1.5E-05 | 1 | ||
| rs1555120937 | 1.000 | 0.040 | 11 | 47335940 | frameshift variant | -/CGCCACTTGAGGGAGACCGTGGTGTC | delins | 1 | |||
| rs35049558 | 0.851 | 0.040 | 12 | 110914287 | frameshift variant | -/CT | ins | 8.0E-06 | 8 | ||
| rs1555123438 | 1.000 | 0.040 | 11 | 47349921 | splice region variant | -/CTGC | delins | 1 |