| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1276908141 | 1.000 | 0.160 | 6 | 135433187 | synonymous variant | C/T | snv | 4.0E-06 | 1 | ||
| rs1554208431 | 1.000 | 0.160 | 6 | 135453426 | frameshift variant | A/- | delins | 1 | |||
| rs1554214237 | 1.000 | 0.160 | 6 | 135463220 | frameshift variant | T/- | del | 1 | |||
| rs1554350503 | 1.000 | 0.160 | 6 | 135447109 | frameshift variant | -/T | delins | 1 | |||
| rs397514726 | 0.925 | 0.240 | 6 | 135457593 | missense variant | C/A;T | snv | 4.0E-05 | 1 | ||
| rs863225135 | 0.882 | 0.240 | 6 | 135427244 | missense variant | T/C | snv | 1.4E-05 | 1 | ||
| rs905262279 | 1.000 | 0.160 | 6 | 135448418 | stop gained | AA/- | del | 4.0E-06 | 7.0E-06 | 1 | |
| rs369488112 | 1.000 | 0.160 | 17 | 19343796 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
| rs373478202 | 1.000 | 0.160 | 17 | 19347840 | missense variant | G/A;C;T | snv | 3.6E-05; 4.0E-06; 8.0E-06 | 1 | ||
| rs757863670 | 0.925 | 0.160 | 19 | 41358004 | missense variant | A/G | snv | 1.2E-05 | 1 | ||
| rs786204189 | 1.000 | 0.160 | 19 | 41357948 | frameshift variant | ATGTCCCC/- | delins | 7.0E-06 | 1 | ||
| rs750436680 | 0.925 | 0.160 | 19 | 41354765 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
| rs150291837 | 1.000 | 0.160 | 11 | 74049431 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 | 1 | |
| rs863225151 | 1.000 | 0.160 | 11 | 74074252 | splice donor variant | C/A | snv | 1 | |||
| rs375278294 | 1.000 | 0.160 | 4 | 15574207 | stop gained | C/A;T | snv | 2.0E-05; 1.3E-05 | 1 | ||
| rs367600930 | 0.925 | 0.160 | 5 | 123399153 | missense variant | C/G | snv | 2.8E-05 | 2.8E-05 | 1 | |
| rs863224523 | 1.000 | 0.160 | 12 | 88086416 | frameshift variant | TT/- | delins | 1 | |||
| rs565629362 | 1.000 | 0.160 | 5 | 37179445 | splice acceptor variant | T/C | snv | 1 | |||
| rs1431917892 | 1.000 | 0.160 | 9 | 136429688 | frameshift variant | C/- | del | 4.0E-06 | 1 | ||
| rs1564430716 | 1.000 | 0.160 | 9 | 136429766 | stop gained | A/C | snv | 1 | |||
| rs1114167302 | 0.925 | 0.320 | 17 | 58216687 | missense variant | C/A | snv | 1 | |||
| rs1555600644 | 1.000 | 0.160 | 17 | 58216280 | intron variant | ATTATAATACATCAAACTTTTGCTTCTGTAACTGTTTAATCAAATCAGTTCTACAGAACTGATGCTATCTGACATGTTTTCATAACCAACACTAAACTAATGAATGGCAGGGGAACCAAGAACATTAGAGCTAAAAGGAACCA/- | del | 1 | |||
| rs773269657 | 1.000 | 0.160 | 17 | 58207103 | synonymous variant | C/A | snv | 4.0E-06 | 1 | ||
| rs773684291 | 0.925 | 0.320 | 17 | 58207959 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 1 | ||
| rs779953982 | 1.000 | 0.160 | 17 | 58214763 | missense variant | G/A | snv | 3.7E-05 | 2.1E-05 | 1 |