| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs28936415 | 0.752 | 0.320 | 16 | 8811153 | missense variant | G/A | snv | 4.1E-03 | 3.7E-03 | 22 | |
| rs1057519429 | 0.807 | 0.240 | 19 | 13235666 | missense variant | C/G;T | snv | 15 | |||
| rs869312685 | 0.807 | 0.240 | 3 | 4815135 | missense variant | G/A;C | snv | 11 | |||
| rs113994152 | 0.790 | 0.160 | 17 | 75522000 | missense variant | G/T | snv | 9.0E-04 | 9.0E-04 | 11 | |
| rs184953805 | 0.882 | 0.200 | 3 | 48467284 | stop gained | G/A | snv | 8 | |||
| rs1218912272 | 0.925 | 0.160 | 1 | 152314342 | stop gained | T/A | snv | 4.0E-06 | 8 | ||
| rs138249161 | 0.827 | 0.240 | 12 | 106432421 | missense variant | T/A | snv | 2.7E-04 | 3.0E-04 | 8 | |
| rs78300695 | 0.882 | 0.200 | 3 | 48466711 | frameshift variant | -/G | delins | 2.1E-05 | 8 | ||
| rs1554823375 | 0.851 | 0.160 | 10 | 1080454 | missense variant | C/T | snv | 8 | |||
| rs370270828 | 0.882 | 0.160 | 14 | 105241292 | missense variant | G/A | snv | 8.0E-06 | 2.8E-05 | 7 | |
| rs373957300 | 0.882 | 0.160 | 14 | 105228832 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 7 | |
| rs606231416 | 0.882 | 0.160 | 14 | 105241282 | missense variant | G/A | snv | 8.1E-06 | 7 | ||
| rs606231450 | 0.882 | 0.160 | 14 | 105226674 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 7 | ||
| rs121908681 | 0.851 | 0.160 | 22 | 38120867 | missense variant | T/C;G | snv | 2.4E-05 | 7 | ||
| rs80338700 | 0.851 | 0.200 | 16 | 8806398 | missense variant | C/G;T | snv | 4.0E-06; 2.4E-05 | 7 | ||
| rs1057518887 | 0.925 | 0.160 | 4 | 25156851 | splice region variant | C/T | snv | 7 | |||
| rs375761808 | 0.925 | 0.160 | 1 | 26775673 | missense variant | A/G;T | snv | 4.0E-06 | 6 | ||
| rs534542684 | 0.827 | 0.240 | 14 | 58432439 | frameshift variant | G/- | del | 3.1E-03 | 3.4E-03 | 6 | |
| rs775141057 | 0.882 | 0.120 | 12 | 106496115 | missense variant | C/A;T | snv | 4.0E-06 | 2.1E-05 | 6 | |
| rs1057518963 | 0.851 | 0.200 | X | 68210239 | missense variant | A/G | snv | 6 | |||
| rs1555975523 | 0.851 | 0.200 | X | 41534892 | splice donor variant | C/AT | delins | 5 | |||
| rs770566897 | 0.882 | 0.120 | 14 | 58444072 | frameshift variant | AA/- | del | 2.8E-05 | 2.1E-05 | 4 | |
| rs372318863 | 0.882 | 0.160 | 4 | 121804718 | stop gained | C/G;T | snv | 8.0E-06; 2.0E-05 | 3 | ||
| rs730882243 | 1.000 | 0.120 | 1 | 215602099 | frameshift variant | CCCTTGCGAATGAAAGATAATGATCTTCTTGTAACTGA/- | del | 3 | |||
| rs541845688 | 0.925 | 0.160 | 2 | 219210782 | missense variant | C/T | snv | 4.4E-05 | 7.0E-06 | 2 |