| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs3836790 | 0.882 | 0.080 | 5 | 1411740 | intron variant | -/ACATACACACTCAGACACACATACCATGCA | ins | 5 | |||
| rs28363170 | 0.827 | 0.120 | 5 | 1393745 | 3 prime UTR variant | -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC | delins | 8.1E-06 | 7 | ||
| rs387906315 | 0.790 | 0.160 | 1 | 155240660 | frameshift variant | -/C | delins | 5.2E-05 | 5.6E-05 | 8 | |
| rs35986369 | 1.000 | 0.040 | 3 | 19950975 | frameshift variant | -/GG | delins | 2 | |||
| rs777296100 | 0.925 | 0.080 | 4 | 89725318 | 3 prime UTR variant | -/TAA;TAAAA | ins | 2 | |||
| rs879253853 | 1.000 | 0.040 | 15 | 62013057 | frameshift variant | -/TCTG | ins | 1 | |||
| rs1485215606 | 1.000 | 0.040 | 4 | 184632296 | frameshift variant | A/- | del | 4.0E-06 | 7.0E-06 | 1 | |
| rs541455835 | 1.000 | 0.040 | 17 | 46099939 | intron variant | A/- | del | 0.14 | 1 | ||
| rs74315352 | 0.807 | 0.080 | 1 | 7984930 | missense variant | A/C | snv | 1.4E-04 | 5.9E-04 | 6 | |
| rs201106962 | 0.851 | 0.080 | 4 | 89828156 | missense variant | A/C | snv | 8.0E-05 | 7.0E-05 | 5 | |
| rs72796353 | 0.882 | 0.080 | 16 | 50712383 | 3 prime UTR variant | A/C | snv | 1.3E-02 | 1.4E-02 | 5 | |
| rs10518765 | 1.000 | 0.040 | 15 | 54388434 | intron variant | A/C | snv | 0.16 | 3 | ||
| rs397515634 | 0.925 | 0.040 | 4 | 41256996 | missense variant | A/C | snv | 4.0E-06 | 3 | ||
| rs11186 | 0.925 | 0.040 | 2 | 189032668 | 3 prime UTR variant | A/C | snv | 9.4E-02 | 2 | ||
| rs17564983 | 1.000 | 0.040 | 17 | 45934459 | intron variant | A/C | snv | 0.14 | 2 | ||
| rs1876487 | 1.000 | 0.040 | 2 | 72887223 | upstream gene variant | A/C | snv | 0.54 | 2 | ||
| rs2390669 | 1.000 | 0.040 | 2 | 168235432 | intron variant | A/C | snv | 0.14 | 2 | ||
| rs34884217 | 0.925 | 0.080 | 4 | 950422 | splice acceptor variant | A/C | snv | 7.0E-02 | 6.8E-02 | 2 | |
| rs74163686 | 0.925 | 0.040 | 12 | 40309225 | missense variant | A/C | snv | 2 | |||
| rs869312809 | 0.925 | 0.040 | 15 | 61915631 | splice donor variant | A/C | snv | 2 | |||
| rs1043424 | 1.000 | 0.040 | 1 | 20650507 | missense variant | A/C | snv | 0.29 | 0.28 | 1 | |
| rs12364577 | 1.000 | 0.040 | 11 | 49685809 | intron variant | A/C | snv | 0.35 | 1 | ||
| rs17425752 | 1.000 | 0.040 | 17 | 45829360 | splice region variant | A/C | snv | 0.15 | 0.14 | 1 | |
| rs213462 | 1.000 | 0.040 | X | 83449447 | intergenic variant | A/C | snv | 0.50 | 1 | ||
| rs2744690 | 1.000 | 0.040 | 1 | 13811306 | intron variant | A/C | snv | 0.87 | 1 |