| 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 | ||
| rs1555144459 | 0.925 | 0.120 | 12 | 32841038 | frameshift variant | -/A | delins | 3 | |||
| rs1559448864 | 2 | 178575386 | frameshift variant | -/A | delins | 1 | |||||
| rs1559469421 | 2 | 178577230 | frameshift variant | -/A | delins | 1 | |||||
| rs1561698714 | 6 | 7580519 | frameshift variant | -/A | delins | 1 | |||||
| rs1565623713 | 11 | 47333996 | frameshift variant | -/A | delins | 1 | |||||
| rs1565626367 | 11 | 47339656 | frameshift variant | -/ATAG | delins | 1 | |||||
| rs397515960 | 0.925 | 0.080 | 11 | 47337791 | frameshift variant | -/C | delins | 3 | |||
| rs1554398705 | 7 | 128842906 | frameshift variant | -/C | delins | 1 | |||||
| rs1561701721 | 6 | 7583201 | frameshift variant | -/C | delins | 1 | |||||
| rs1565627145 | 11 | 47341183 | frameshift variant | -/C | delins | 1 | |||||
| rs35049558 | 0.851 | 0.040 | 12 | 110914287 | frameshift variant | -/CT | ins | 8.0E-06 | 8 | ||
| rs730881119 | 1 | 201359629 | frameshift variant | -/G | delins | 1 | |||||
| rs1565628520 | 11 | 47343585 | stop gained | -/GCTCACCTGGTAGGCCGGCTCCAGCTTCT | delins | 1 | |||||
| rs397516049 | 0.925 | 0.080 | 11 | 47350082 | frameshift variant | -/T | delins | 3.0E-05 | 7.0E-06 | 3 | |
| rs730880365 | 1.000 | 0.040 | 2 | 178549998 | frameshift variant | -/T | delins | 8.1E-06 | 3 | ||
| rs730880336 | 0.925 | 0.040 | 11 | 47346254 | frameshift variant | -/TGCCG | delins | 4.0E-06 | 3 | ||
| rs730880689 | 11 | 47343543 | stop gained | -/TGGTCAGCCAGTTCCA | delins | 1 | |||||
| rs730880492 | 1.000 | 0.160 | X | 120447993 | frameshift variant | -/TGTTG | delins | 5.5E-06; 5.5E-06 | 2 | ||
| rs397515934 | 0.925 | 0.080 | 11 | 47341140 | frameshift variant | A/- | del | 3 | |||
| rs1559262463 | 2 | 178558000 | frameshift variant | A/- | del | 1 | |||||
| rs730880092 | 6 | 7583572 | frameshift variant | A/- | del | 5.2E-05 | 2.8E-05 | 1 | |||
| rs730880655 | 11 | 47336010 | frameshift variant | A/- | del | 1 | |||||
| rs58034145 | 0.827 | 0.160 | 1 | 156134830 | missense variant | A/C | snv | 10 | |||
| rs104894204 | 0.882 | 0.040 | 11 | 19188245 | missense variant | A/C | snv | 4 |