| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs72613567 | 0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 | 14 | ||
| rs45487298 | 0.882 | 0.120 | 1 | 209706871 | intron variant | -/A | delins | 3 | |||
| rs1131691041 | 17 | 7676271 | frameshift variant | -/A | delins | 2 | |||||
| rs867120336 | 1.000 | 0.040 | 2 | 10048589 | frameshift variant | -/A | delins | 4.1E-06 | 2 | ||
| rs748289455 | 1.000 | 0.080 | 10 | 73647532 | frameshift variant | -/A | ins | 1.4E-05 | 1 | ||
| rs143046984 | 0.790 | 0.080 | 14 | 70937529 | intron variant | -/A | delins | 4.2E-02 | 1 | ||
| rs1443187318 | 0.882 | 0.080 | 7 | 44108060 | stop gained | -/A | delins | 1.3E-05 | 1 | ||
| rs1057519682 | 0.925 | 0.080 | 19 | 11120458 | frameshift variant | -/A | delins | 1 | |||
| rs11368509 | 1.000 | 0.040 | 2 | 158102039 | frameshift variant | -/A | ins | 8.0E-05; 6.3E-02 | 0.10 | 1 | |
| rs11428092 | 1.000 | 0.040 | 2 | 61301164 | intron variant | -/A | delins | 0.34 | 1 | ||
| rs60542319 | 1.000 | 0.040 | 12 | 48001261 | intron variant | -/A | delins | 3.7E-04 | 1 | ||
| rs1166208736 | 1.000 | 0.080 | 8 | 104251126 | frameshift variant | -/A | delins | 1 | |||
| rs34208922 | 1.000 | 7 | 74069201 | 3 prime UTR variant | -/A | ins | 0.30 | 1 | |||
| rs10664316 | 1.000 | 10 | 122456869 | intron variant | -/A;AC | ins | 7.7E-05 | 1 | |||
| rs34852782 | 0.925 | 0.120 | 7 | 151869086 | intron variant | -/A;AG | ins | 2 | |||
| rs3832406 | 0.925 | 6 | 150898848 | intron variant | -/A;ATA;ATTATG | ins | 5.8E-05; 4.3E-05 | 2.1E-05 | 3 | ||
| rs1799768 | 0.807 | 0.360 | 7 | 101126425 | upstream gene variant | -/A;C | ins | 6 | |||
| rs3832879 | 12 | 4372733 | non coding transcript exon variant | -/A;G | ins | 4.0E-06; 0.12; 4.0E-06; 4.0E-06 | 0.10 | 2 | |||
| rs6147150 | 0.827 | 0.160 | 2 | 211380365 | 3 prime UTR variant | -/AAAATAGGATTG | delins | 5 | |||
| rs57408770 | 1.000 | 0.080 | 2 | 219058688 | non coding transcript exon variant | -/AAG | delins | 2 | |||
| rs1266420848 | 1.000 | 0.080 | 22 | 26026616 | frameshift variant | -/AAGTCCACAGA | delins | 4.0E-06 | 1 | ||
| rs2307981 | 1.000 | 0.040 | 3 | 12022928 | intron variant | -/ACA | delins | 0.64 | 1 | ||
| rs3836790 | 0.882 | 0.080 | 5 | 1411740 | intron variant | -/ACATACACACTCAGACACACATACCATGCA | ins | 5 | |||
| rs906600204 | 1.000 | 0.080 | 17 | 75569087 | frameshift variant | -/ACTT | delins | 1 | |||
| rs483353122 | 0.851 | 0.200 | 13 | 32363410 | frameshift variant | -/AG | ins | 2 |