| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs150168522 | 0.925 | 0.160 | 21 | 46132367 | missense variant | G/A;C | snv | 4.9E-05; 2.9E-05 | 4 | ||
| rs886039905 | 0.882 | 0.240 | 21 | 46125854 | frameshift variant | -/T | delins | 4 | |||
| rs121912938 | 0.882 | 0.160 | 21 | 45989129 | missense variant | G/A | snv | 3 | |||
| rs121912939 | 0.882 | 0.160 | 21 | 45989617 | missense variant | G/A;C;T | snv | 3 | |||
| rs267606748 | 0.882 | 0.160 | 21 | 46115917 | missense variant | G/A | snv | 3 | |||
| rs398124119 | 0.882 | 0.160 | 2 | 237395121 | stop gained | G/A | snv | 4.4E-05 | 2.8E-05 | 3 | |
| rs398124126 | 0.882 | 0.160 | 2 | 237361120 | splice donor variant | C/T | snv | 3 | |||
| rs764193290 | 0.882 | 0.160 | 2 | 237342163 | splice acceptor variant | T/- | del | 4.0E-06 | 3 | ||
| rs797044988 | 0.882 | 0.160 | 2 | 237359390 | splice acceptor variant | T/G | snv | 3 | |||
| rs267606747 | 0.925 | 0.160 | 21 | 46126144 | missense variant | T/C | snv | 4.0E-06 | 2 | ||
| rs886043919 | 0.925 | 0.160 | 2 | 237359361 | splice donor variant | C/A;T | snv | 2 | |||
| rs121912937 | 1.000 | 0.160 | 21 | 46001981 | stop gained | C/G;T | snv | 2.5E-05 | 1 | ||
| rs137964147 | 1.000 | 0.160 | 21 | 45982738 | missense variant | C/T | snv | 5.5E-04 | 5.7E-04 | 1 | |
| rs1569517943 | 1.000 | 0.160 | 21 | 45987637 | missense variant | G/T | snv | 1 | |||
| rs1569518138 | 1.000 | 0.160 | 21 | 45989713 | intron variant | A/G | snv | 1 | |||
| rs1569518677 | 1.000 | 0.160 | 21 | 45997721 | missense variant | C/T | snv | 1 | |||
| rs267606746 | 1.000 | 0.160 | 21 | 45989120 | missense variant | G/A | snv | 1 | |||
| rs797044457 | 1.000 | 0.160 | 21 | 45989135 | frameshift variant | C/- | delins | 1 | |||
| rs797044458 | 1.000 | 0.160 | 21 | 45997703 | frameshift variant | G/- | del | 1 | |||
| rs113828929 | 1.000 | 0.160 | 21 | 46126238 | splice donor variant | G/A;C | snv | 4.2E-06; 4.2E-06 | 1 | ||
| rs1255514828 | 1.000 | 0.160 | 21 | 46132002 | missense variant | T/C | snv | 4.2E-06 | 7.0E-06 | 1 | |
| rs1568931397 | 1.000 | 0.160 | 21 | 46118604 | intron variant | A/G | snv | 1 | |||
| rs267606749 | 1.000 | 0.160 | 21 | 46121590 | missense variant | G/A | snv | 2.4E-05 | 4.9E-05 | 1 | |
| rs387906607 | 1.000 | 0.160 | 21 | 46125518 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs387906608 | 1.000 | 0.160 | 21 | 46132118 | missense variant | C/A;G;T | snv | 5.2E-06; 2.1E-05 | 1 |