| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1060502224 | 1.000 | 0.080 | 8 | 64596876 | frameshift variant | -/A | delins | 8.0E-06 | 1 | ||
| rs1558119445 | 1.000 | 0.080 | 1 | 228157841 | frameshift variant | -/AC | delins | 1 | |||
| rs863223926 | 0.925 | 0.080 | 12 | 123253769 | frameshift variant | -/ATCC | delins | 2 | |||
| rs1085307110 | 0.925 | 0.120 | 3 | 134650909 | frameshift variant | -/ATGTCGATAGATACAGCACATGTCGATA | ins | 3 | |||
| rs950356390 | 1.000 | 0.080 | 14 | 67783037 | frameshift variant | -/GCCCTTC | ins | 7.0E-06 | 1 | ||
| rs754944429 | 1.000 | 0.080 | 15 | 50997722 | frameshift variant | -/TATGT | ins | 3.2E-05; 8.0E-06 | 1 | ||
| rs281865117 | 0.925 | 0.160 | 13 | 23335032 | frameshift variant | A/- | del | 6.4E-05 | 1.4E-05 | 2 | |
| rs142375870 | 0.925 | 0.080 | 19 | 35302594 | missense variant | A/C | snv | 2.3E-04 | 2.2E-04 | 3 | |
| rs767164213 | 0.925 | 0.160 | 14 | 67786112 | splice donor variant | A/C | snv | 1.6E-05 | 2 | ||
| rs878854975 | 0.925 | 0.120 | 12 | 6464888 | splice donor variant | A/C | snv | 2 | |||
| rs66864704 | 0.882 | 0.280 | 16 | 16188907 | missense variant | A/G | snv | 1.2E-04 | 3.6E-04 | 10 | |
| rs121434441 | 0.882 | 0.240 | 12 | 57569015 | missense variant | A/G | snv | 3 | |||
| rs121434443 | 0.925 | 0.120 | 12 | 57569263 | missense variant | A/G | snv | 2 | |||
| rs1331505548 | 0.925 | 0.200 | 2 | 148949891 | missense variant | A/G | snv | 2 | |||
| rs587776888 | 0.925 | 0.160 | 1 | 228149860 | upstream gene variant | A/G | snv | 2 | |||
| rs121908613 | 0.882 | 0.120 | 8 | 64615716 | stop gained | A/G;T | snv | 7.6E-05 | 3 | ||
| rs397514513 | 0.882 | 0.080 | 4 | 107945426 | missense variant | A/T | snv | 4 | |||
| rs1566055368 | 1.000 | 0.080 | 13 | 23330968 | stop gained | A/T | snv | 1 | |||
| rs773182375 | 1.000 | 0.080 | 13 | 23336670 | frameshift variant | AA/- | del | 1.4E-05 | 1 | ||
| rs1060503431 | 1.000 | 0.080 | 13 | 23334312 | frameshift variant | ACAA/- | delins | 1 | |||
| rs759033144 | 1.000 | 0.080 | 4 | 107947399 | frameshift variant | AG/- | delins | 1.2E-05 | 2.1E-05 | 1 | |
| rs878855083 | 1.000 | 0.080 | 16 | 74716564 | frameshift variant | AG/- | del | 4.7E-06 | 1 | ||
| rs1006060877 | 1.000 | 0.080 | 13 | 23354743 | frameshift variant | C/- | del | 1.4E-05 | 1 | ||
| rs878855013 | 1.000 | 0.080 | 14 | 67769731 | splice acceptor variant | C/- | del | 1 | |||
| rs772400670 | 0.925 | 0.080 | 4 | 107947417 | stop gained | C/A;G;T | snv | 8.0E-06; 1.2E-05; 1.2E-05 | 3 |