| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1047624774 | 1.000 | 0.120 | 1 | 203700807 | missense variant | T/C | snv | 4.0E-06 | 3.5E-05 | 2 | |
| rs104893714 | 0.925 | 0.120 | 3 | 8745701 | missense variant | T/G | snv | 3 | |||
| rs1057517742 | 1.000 | 0.120 | 7 | 150958430 | stop gained | G/C;T | snv | 1 | |||
| rs1057520558 | 1.000 | 0.120 | 7 | 150947453 | stop gained | G/C | snv | 1 | |||
| rs1057520598 | 1.000 | 0.120 | 7 | 150959738 | splice acceptor variant | T/C | snv | 1 | |||
| rs1060500621 | 1.000 | 0.120 | 11 | 2572846 | missense variant | GA/TT | mnv | 1 | |||
| rs1060500623 | 1.000 | 0.120 | 11 | 2445295 | frameshift variant | C/- | delins | 1 | |||
| rs1060500626 | 1.000 | 0.120 | 11 | 2572069 | frameshift variant | AGGCTCCTGG/- | delins | 1 | |||
| rs1060500628 | 1.000 | 0.120 | 11 | 2572062 | stop gained | G/T | snv | 1 | |||
| rs1060500629 | 1.000 | 0.120 | 11 | 2587616 | stop gained | G/A | snv | 1 | |||
| rs1060500661 | 1.000 | 0.120 | 7 | 150951698 | frameshift variant | G/- | delins | 1 | |||
| rs1060500662 | 1.000 | 0.120 | 7 | 150950200 | frameshift variant | -/TC | delins | 1 | |||
| rs1060500670 | 1.000 | 0.120 | 7 | 150959642 | frameshift variant | C/- | del | 1 | |||
| rs1060502318 | 1.000 | 0.120 | 3 | 8733882 | frameshift variant | GG/- | del | 7.0E-06 | 1 | ||
| rs1064793434 | 1.000 | 0.120 | 7 | 150948978 | frameshift variant | C/- | delins | 1 | |||
| rs1064794793 | 1.000 | 0.120 | 7 | 150950983 | stop gained | G/A | snv | 1 | |||
| rs1064795287 | 0.925 | 0.120 | 7 | 150947683 | frameshift variant | GG/T | delins | 2 | |||
| rs1064795333 | 1.000 | 0.120 | 11 | 2528005 | frameshift variant | CT/- | delins | 1 | |||
| rs10800397 | 1.000 | 0.120 | 1 | 162267300 | intron variant | C/G;T | snv | 1 | |||
| rs1085307479 | 1.000 | 0.120 | 14 | 90404691 | missense variant | T/C | snv | 1 | |||
| rs1085307620 | 1.000 | 0.120 | 7 | 150958306 | frameshift variant | TGCCA/G | delins | 1 | |||
| rs1131691762 | 1.000 | 0.120 | 21 | 34449622 | frameshift variant | -/A | delins | 4.0E-06 | 1 | ||
| rs1137617 | 1.000 | 0.120 | 7 | 150951110 | stop gained | A/C;G;T | snv | 0.66 | 1 | ||
| rs11551462 | 0.925 | 0.120 | 2 | 47160802 | missense variant | A/G | snv | 2 | |||
| rs1167115018 | 0.827 | 0.160 | 6 | 26092760 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 5 |