| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs80338903 | 0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 | 25 | |
| rs397515360 | 0.807 | 0.160 | 8 | 86643781 | frameshift variant | G/- | del | 1.8E-03 | 8 | ||
| rs2723341 | 0.807 | 0.160 | 15 | 71811481 | splice acceptor variant | A/C | snv | 5.3E-04 | 5.1E-04 | 8 | |
| rs1800553 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 7 | |
| rs281865377 | 0.807 | 0.080 | 1 | 94029447 | frameshift variant | G/-;GG | delins | 2.1E-05 | 6 | ||
| rs76157638 | 0.851 | 0.080 | 1 | 94051698 | missense variant | C/G;T | snv | 4.4E-03; 4.0E-06 | 6 | ||
| rs121909398 | 0.827 | 0.080 | 2 | 181558617 | stop gained | G/A;C | snv | 3.5E-04; 4.0E-06 | 6 | ||
| rs483353055 | 0.827 | 0.200 | 1 | 216200031 | missense variant | C/T | snv | 6 | |||
| rs76216585 | 0.807 | 0.160 | 12 | 89492071 | stop gained | C/A;G;T | snv | 8.5E-06; 2.7E-04 | 5 | ||
| rs201471607 | 0.851 | 0.080 | 1 | 94046943 | missense variant | T/C | snv | 1.4E-04 | 7.7E-05 | 4 | |
| rs62625014 | 0.851 | 0.080 | 4 | 47937535 | missense variant | G/A;C | snv | 1.1E-03; 2.4E-05 | 4 | ||
| rs200691042 | 0.851 | 0.080 | 2 | 61839695 | stop gained | T/A | snv | 2.8E-04 | 2.9E-04 | 4 | |
| rs104893793 | 0.851 | 0.080 | 3 | 129531005 | missense variant | C/A;T | snv | 4.0E-06 | 4 | ||
| rs1762111 | 0.851 | 0.080 | 1 | 94021934 | missense variant | A/G | snv | 1.2E-03 | 1.3E-03 | 3 | |
| rs150115958 | 0.882 | 0.160 | 11 | 67457677 | stop gained | C/A;T | snv | 5.2E-05 | 3 | ||
| rs1057517694 | 0.882 | 0.200 | 9 | 78248290 | splice acceptor variant | G/A | snv | 3 | |||
| rs1057517695 | 0.882 | 0.200 | 9 | 78241729 | frameshift variant | T/- | delins | 3 | |||
| rs104893968 | 0.790 | 0.200 | 6 | 42173762 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-03 | 3 | ||
| rs61750173 | 0.827 | 0.080 | 17 | 8014701 | missense variant | G/A | snv | 3 | |||
| rs121918567 | 0.807 | 0.080 | 6 | 42704609 | missense variant | C/A;T | snv | 4.0E-06 | 3 | ||
| rs397517994 | 0.882 | 0.200 | 1 | 215640615 | stop gained | G/A | snv | 7.0E-06 | 3 | ||
| rs768278935 | 0.925 | 0.080 | 1 | 94041249 | missense variant | C/T | snv | 2.0E-05 | 7.0E-06 | 2 | |
| rs886044750 | 0.925 | 0.080 | 1 | 94015738 | splice donor variant | C/T | snv | 7.0E-06 | 2 | ||
| rs137853041 | 0.925 | 0.080 | 8 | 39017298 | stop gained | C/G;T | snv | 4.0E-06 | 2 | ||
| rs786205086 | 0.925 | 0.080 | 8 | 39017211 | splice region variant | A/G | snv | 2 |