Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121918459 | 0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 46 | |
rs199474657 | 0.752 | 0.360 | MT | 3243 | non coding transcript exon variant | A/G | snv | 15 | |||
rs28933386 | 0.752 | 0.400 | 12 | 112477719 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 14 | |
rs121918466 | 0.752 | 0.280 | 12 | 112450416 | missense variant | A/G | snv | 12 | |||
rs267607048 | 0.752 | 0.560 | 10 | 110964362 | missense variant | A/G | snv | 7.0E-06 | 12 | ||
rs369634007 | 0.882 | 0.080 | 2 | 112098688 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 10 | |
rs727505381 | 0.925 | 0.160 | 2 | 39013523 | missense variant | A/G | snv | 4.0E-06 | 4 | ||
rs1057519451 | 1.000 | 0.120 | 14 | 78709310 | missense variant | A/G | snv | 1.4E-05 | 2 | ||
rs121913115 | 1.000 | 0.120 | 4 | 1801928 | missense variant | A/G | snv | 2 | |||
rs531047390 | 1.000 | 0.120 | 14 | 78968349 | splice region variant | A/G | snv | 2.0E-04 | 2.1E-05 | 2 | |
rs1565798439 | 12 | 71610513 | missense variant | A/G | snv | 1 | |||||
rs1566529937 | 13 | 114052075 | missense variant | A/G | snv | 1 | |||||
rs1566615893 | 14 | 24155442 | missense variant | A/G | snv | 1 | |||||
rs193922466 | Y | 634687 | missense variant | A/G | snv | 1 | |||||
rs201805961 | 20 | 25292483 | missense variant | A/G | snv | 2.4E-05 | 2.1E-05 | 1 | |||
rs778037798 | 3 | 73388079 | non coding transcript exon variant | A/G | snv | 4.9E-05 | 3.5E-05 | 1 | |||
rs765498367 | 0.925 | X | 110317643 | stop gained | A/G;T | snv | 1.2E-04 | 2.8E-05 | 6 | ||
rs797044524 | 0.925 | 21 | 37486513 | missense variant | A/T | snv | 9 | ||||
rs200635937 | 0.925 | 0.040 | 1 | 168104855 | missense variant | A/T | snv | 2.9E-03 | 8.0E-04 | 3 | |
rs1569162748 | 0.925 | 0.120 | X | 13767142 | frameshift variant | AAATT/- | del | 7 | |||
rs760929207 | 0.925 | 0.200 | 2 | 219568050 | splice donor variant | ACCTTTGACTG/- | delins | 8.1E-06 | 7.0E-06 | 12 | |
rs1057518345 | 0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins | 25 | |||
rs771172991 | 20 | 34987284 | splice donor variant | AG/- | delins | 5.6E-05 | 1 | ||||
rs797044522 | 0.925 | 21 | 37496119 | frameshift variant | AGAT/- | delins | 9 | ||||
rs875989777 | 0.851 | 0.320 | 20 | 45894704 | frameshift variant | AT/- | delins | 9 |