Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs201941147 | 6 | 151735234 | intron variant | -/A | ins | 1 | |||||
rs201286260 | 11 | 5205088 | splice donor variant | -/A | ins | 1 | |||||
rs202148845 | 1 | 173081132 | intergenic variant | -/A | delins | 1 | |||||
rs57476984 | 15 | 58426498 | intron variant | -/A | delins | 1.4E-05 | 1 | ||||
rs34325700 | 8 | 42673524 | intergenic variant | -/A | delins | 1 | |||||
rs113143765 | 4 | 38783103 | upstream gene variant | -/A | delins | 1 | |||||
rs70988661 | 5 | 77235823 | intron variant | -/A | delins | 1 | |||||
rs58565441 | 17 | 28753031 | upstream gene variant | -/A;AA | delins | 2.1E-05 | 1 | ||||
rs568700395 | 17 | 28753031 | upstream gene variant | -/A;AA | delins | 1 | |||||
rs147897616 | 1.000 | 0.040 | 6 | 32638205 | intron variant | -/A;G | ins | 1 | |||
rs200351105 | 18 | 46262655 | intron variant | -/AA | delins | 1 | |||||
rs373799938 | 1.000 | 0.040 | 5 | 173218944 | intergenic variant | -/AA;AAA;AAAA | delins | 6.7E-03 | 1 | ||
rs56885347 | 1.000 | 0.120 | 14 | 80992418 | 3 prime UTR variant | -/AAA | delins | 1 | |||
rs568931048 | 1 | 19512621 | intron variant | -/AAACA;AACA;AACAAAACA;AACAAAACAAAACA | delins | 1 | |||||
rs145067756 | 17 | 48923631 | intron variant | -/AAACAATGTCACAG;AAAGAATGTCACAG;AAAGAATGTCGCAG;AATGTCACAG;AGAGAATGTCACAG | delins | 0.40 | 1 | ||||
rs577040336 | 1.000 | 0.160 | 3 | 41856512 | intron variant | -/AATATATATATA | delins | 1 | |||
rs200251830 | 0.925 | 0.120 | 4 | 10073861 | upstream gene variant | -/AT | delins | 3 | |||
rs28986206 | 1.000 | 0.040 | 6 | 32587634 | intron variant | -/AT | ins | 1 | |||
rs145905715 | 11 | 8100687 | intron variant | -/AT | delins | 3.5E-04 | 1 | ||||
rs201886468 | 1 | 196948769 | intron variant | -/AT | delins | 1.4E-02 | 1 | ||||
rs531114901 | 3 | 142496336 | intron variant | -/ATATCT;ATCT;ATGTATATATATATACATGTATATATATATGTATATATATATATCT;CT | delins | 9.6E-04 | 1 | ||||
rs574503121 | 1.000 | 0.120 | 6 | 33090337 | downstream gene variant | -/ATTT | delins | 4.3E-04 | 1 | ||
rs386406569 | 0.925 | 0.120 | 6 | 26101212 | upstream gene variant | -/C | delins | 5 | |||
rs35385468 | 0.925 | 0.120 | 6 | 26101212 | upstream gene variant | -/C | delins | 9.7E-03 | 5 | ||
rs8176719 | 0.925 | 0.120 | 9 | 133257521 | frameshift variant | -/C | ins | 0.37 | 0.35 | 3 |