Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs113358888 | 14 | 106464462 | upstream gene variant | -/A | delins | 1 | |||||
rs146222776 | 19 | 35763280 | intron variant | -/A | delins | 0.10 | 1 | ||||
rs33944729 | 1 | 196682994 | intron variant | -/A | delins | 0.69 | 1 | ||||
rs34172480 | 1 | 154426920 | intron variant | -/A | ins | 3.9E-05 | 1 | ||||
rs11390840 | 1 | 196662874 | intron variant | -/A;AA | delins | 1 | |||||
rs146682150 | 6 | 32640505 | intron variant | -/A;GAA | delins | 1 | |||||
rs3917539 | 7 | 95308384 | intron variant | -/AA | delins | 0.42 | 1 | ||||
rs528143584 | 5 | 103098337 | intron variant | -/AAA | delins | 1 | |||||
rs10690148 | 11 | 18271957 | downstream gene variant | -/ACTTA | delins | 0.82 | 1 | ||||
rs10624573 | 5 | 35857481 | intron variant | -/AGAAG | delins | 0.41 | 1 | ||||
rs397964890 | 5 | 96787817 | intron variant | -/AT;ATAT | delins | 0.63 | 1 | ||||
rs5851138 | 3 | 98773647 | intron variant | -/AT;CAT | ins | 0.91 | 1 | ||||
rs200130057 | 16 | 1227888 | intron variant | -/C | ins | 1 | |||||
rs75077631 | 5 | 177413083 | intron variant | -/C | delins | 0.56 | 1 | ||||
rs148604553 | 16 | 69795259 | intron variant | -/CA | ins | 1 | |||||
rs398073595 | 9 | 136213967 | intron variant | -/CA | delins | 1 | |||||
rs113265260 | 6 | 31422584 | intron variant | -/CA;CACA | delins | 1 | |||||
rs553864359 | 2 | 306687 | intron variant | -/CACA | delins | 1 | |||||
rs142201367 | 4 | 186235350 | intron variant | -/CCTAACTTCATCACCTT;CTAACTTCATCACCTT;TCTAACTT;TCTAACTTCATCACCTT;TTCTAACTTCATCACCTT | delins | 1 | |||||
rs369636044 | 10 | 104245565 | intron variant | -/CCTACAGGATGCAGGACTGGCAGGCAGCTCCACCTGCAGCCC;CCTACGGGATGCAGGACTGGCAGGCAGCTCCACCTGCAGCCC;CCTATGGGATGCAGGACTGGCAGGCAGCTCCACCTGCAGCCC;GCTACGGGATGCAGGACTGGCAGGCAGCTCCACCTGCAGCCC | delins | 1 | |||||
rs34954997 | 19 | 44914381 | 5 prime UTR variant | -/CGTT | delins | 0.23 | 1 | ||||
rs140142103 | 1 | 196692600 | intron variant | -/CT | delins | 0.63 | 1 | ||||
rs34418941 | 2 | 102356208 | non coding transcript exon variant | -/CT | delins | 7.6E-04 | 1 | ||||
rs200436316 | 17 | 58309246 | inframe insertion | -/CTCTTCCTC | delins | 4.3E-02 | 1 | ||||
rs145827860 | 19 | 7716791 | intergenic variant | -/CTGGGGGC | ins | 1 |