| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057520063 | 0.763 | 0.200 | 7 | 41964641 | frameshift variant | -/A | delins | 13 | |||
| rs1567721991 | 0.882 | 0.080 | 16 | 68347257 | frameshift variant | -/GCTCTCCG | delins | 9 | |||
| rs587776917 | 0.776 | 0.200 | 2 | 232485937 | stop gained | -/T | delins | 13 | |||
| rs137853027 | 0.827 | 0.120 | 11 | 103220720 | missense variant | A/G | snv | 2.4E-04 | 2.6E-04 | 15 | |
| rs767846762 | 0.882 | 0.120 | 11 | 103176241 | frameshift variant | AA/- | delins | 1.0E-05 | 7 | ||
| rs1567690011 | 0.882 | 0.080 | 16 | 68337496 | frameshift variant | AG/- | delins | 9 | |||
| rs886039813 | 0.827 | 0.160 | X | 13756600 | frameshift variant | C/- | delins | 8 | |||
| rs1555386022 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 38 | |||
| rs1251713297 | 0.776 | 0.360 | 16 | 68355785 | stop gained | C/A | snv | 8.1E-06 | 15 | ||
| rs4647924 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 49 | ||
| rs1400419650 | 0.708 | 0.320 | 14 | 92005938 | stop gained | C/A;T | snv | 4.0E-06 | 1.4E-05 | 38 | |
| rs776587763 | 0.790 | 0.120 | 10 | 121520085 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 7 | ||
| rs771148519 | 0.807 | 0.200 | 4 | 39225027 | stop gained | C/G | snv | 1.7E-05 | 1.4E-05 | 9 | |
| rs1057518907 | 0.732 | 0.320 | 20 | 58891811 | stop gained | C/G;T | snv | 16 | |||
| rs368869806 | 0.614 | 0.480 | 9 | 95485875 | splice acceptor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 97 | |
| rs104894396 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 28 | |
| rs137854539 | 0.716 | 0.520 | 20 | 58903703 | missense variant | C/T | snv | 28 | |||
| rs1555154946 | 0.827 | 0.120 | 12 | 45850644 | stop gained | C/T | snv | 16 | |||
| rs1057518972 | 0.827 | 0.200 | 8 | 115418359 | missense variant | C/T | snv | 7 | |||
| rs1565317399 | 0.882 | 0.120 | 11 | 103122879 | stop gained | C/T | snv | 6 | |||
| rs1057519324 | 0.925 | 0.080 | 9 | 35801153 | stop gained | C/T | snv | 7.0E-06 | 4 | ||
| rs77096466 | 1.000 | 0.080 | 20 | 58905474 | missense variant | C/T | snv | 1 | |||
| rs886039795 | 0.851 | 0.160 | 17 | 7403143 | frameshift variant | CACTCAGAGCCTGGTAGTAAAA/- | del | 10 | |||
| rs1567499068 | 0.882 | 0.160 | 15 | 76574190 | frameshift variant | G/- | delins | 6 | |||
| rs1555528356 | 0.790 | 0.360 | 16 | 89282836 | stop gained | G/A | snv | 13 |