Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs76151636 | 0.776 | 0.280 | 13 | 51944145 | missense variant | G/A;T | snv | 4.0E-06; 9.2E-04 | 10 | ||
| rs367956522 | 0.851 | 0.240 | 13 | 51949798 | splice acceptor variant | T/C | snv | 2.4E-05 | 7.7E-05 | 7 | |
| rs732774 | 0.827 | 0.320 | 13 | 51949672 | missense variant | C/T | snv | 0.57 | 0.56 | 5 | |
| rs28942074 | 0.851 | 0.240 | 13 | 51958333 | missense variant | C/A;T | snv | 1.4E-04; 3.2E-05 | 4 | ||
| rs1061472 | 0.925 | 0.200 | 13 | 51950352 | missense variant | T/C;G | snv | 0.54 | 2 | ||
| rs121907990 | 0.925 | 0.240 | 13 | 51937570 | missense variant | T/A;C | snv | 4.0E-06; 2.2E-04 | 2 | ||
| rs1286080173 | 0.925 | 0.160 | 13 | 51942551 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 2 | ||
| rs201497300 | 0.925 | 0.160 | 13 | 51946337 | missense variant | C/T | snv | 4.6E-05 | 2.8E-05 | 2 | |
| rs2147363 | 0.925 | 0.200 | 13 | 51968660 | intron variant | T/G | snv | 0.69 | 2 | ||
| rs376910645 | 0.925 | 0.160 | 13 | 51944162 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
| rs749085322 | 0.925 | 0.160 | 13 | 51941132 | missense variant | T/C | snv | 4.0E-05 | 2.1E-05 | 2 | |
| rs775541743 | 0.925 | 0.160 | 13 | 51942481 | missense variant | A/T | snv | 4.0E-06 | 2 | ||
| rs1021025464 | 1.000 | 0.160 | 13 | 52012013 | splice region variant | T/C | snv | 9.1E-05 | 1 | ||
| rs1484840087 | 1.000 | 0.160 | 13 | 52011759 | intron variant | GCGGTCTCGGCCACC/- | delins | 7.0E-06 | 1 | ||
| rs1038582488 | 1.000 | 0.160 | 13 | 51946405 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
| rs1045194246 | 1.000 | 0.160 | 13 | 51944303 | non coding transcript exon variant | A/C;T | snv | 4.1E-06; 4.1E-06 | 1 | ||
| rs1052485948 | 1.000 | 0.160 | 13 | 51949764 | missense variant | A/C;G;T | snv | 4.0E-06; 8.0E-06 | 1 | ||
| rs1057516227 | 1.000 | 0.160 | 13 | 51937354 | frameshift variant | TG/- | del | 1 | |||
| rs1057516228 | 1.000 | 0.160 | 13 | 51937349 | frameshift variant | C/- | delins | 1 | |||
| rs1057516305 | 1.000 | 0.160 | 13 | 51970663 | stop gained | C/A | snv | 1 | |||
| rs1057516380 | 1.000 | 0.160 | 13 | 51958509 | stop gained | G/T | snv | 1 | |||
| rs1057516418 | 1.000 | 0.160 | 13 | 51970522 | frameshift variant | -/A | delins | 1 | |||
| rs1057516425 | 1.000 | 0.160 | 13 | 51950006 | splice donor variant | C/T | snv | 1 | |||
| rs1057516479 | 1.000 | 0.160 | 13 | 51941108 | stop gained | G/A | snv | 4.0E-06 | 1 | ||
| rs1057516516 | 1.000 | 0.160 | 13 | 51975117 | stop gained | T/A;C | snv | 4.0E-06 | 1 |