| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121434350 | 0.882 | 0.240 | 6 | 135455750 | missense variant | A/T | snv | 2 | |||
| rs121434351 | 0.925 | 0.240 | 6 | 135433125 | missense variant | C/T | snv | 2.8E-05 | 2.8E-05 | 2 | |
| rs371637724 | 0.925 | 0.240 | 6 | 135448400 | stop gained | G/A;C;T | snv | 1.6E-05; 4.0E-06 | 2 | ||
| rs777668842 | 0.925 | 0.240 | 6 | 135455811 | stop gained | G/A;C | snv | 6.5E-05; 4.3E-06 | 2 | ||
| rs797045223 | 0.925 | 0.240 | 6 | 135442633 | stop gained | C/A | snv | 2 | |||
| 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 | |
| rs764109067 | 0.851 | 0.280 | 3 | 94036664 | missense variant | G/A;T | snv | 4.0E-06 | 6 | ||
| rs886039811 | 0.807 | 0.320 | 17 | 19357875 | missense variant | A/G | snv | 4.0E-06 | 6 | ||
| rs143149764 | 0.882 | 0.200 | 17 | 19347782 | splice donor variant | A/G | snv | 2.8E-05 | 9.1E-05 | 3 | |
| rs771170000 | 0.925 | 0.160 | 17 | 19360357 | missense variant | T/C | snv | 1.2E-05 | 2.1E-05 | 2 | |
| 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 | ||
| rs587777653 | 0.925 | 0.160 | 11 | 74168485 | stop gained | G/A | snv | 1.2E-05 | 2 | ||
| 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 | |||
| rs386833760 | 0.790 | 0.360 | 4 | 15587929 | splice donor variant | G/- | delins | 1.9E-04 | 11 |