| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs114925667 | 0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 | 62 | ||
| rs796052505 | 0.724 | 0.440 | 5 | 162095551 | missense variant | G/A;C | snv | 57 | |||
| rs374052333 | 0.763 | 0.320 | 3 | 132671032 | stop gained | C/G;T | snv | 4.0E-06 | 27 | ||
| rs1555731819 | 0.807 | 0.200 | 19 | 35729980 | missense variant | G/T | snv | 26 | |||
| rs1562114190 | 0.790 | 0.160 | 6 | 78946061 | frameshift variant | A/- | delins | 21 | |||
| rs398122394 | 0.763 | 0.240 | X | 111685040 | missense variant | A/G | snv | 16 | |||
| rs1569525894 | 0.790 | 0.280 | X | 136040055 | frameshift variant | TCTTCCTTAACCACCGC/- | delins | 14 | |||
| rs147484110 | 0.807 | 0.200 | 21 | 43774760 | splice acceptor variant | C/G | snv | 1.5E-04 | 2.7E-04 | 11 | |
| rs878853280 | 1.000 | 9 | 109137529 | stop gained | G/A | snv | 4 | ||||
| rs878853281 | 1.000 | 9 | 109141360 | stop gained | C/T | snv | 4.0E-06 | 4 | |||
| rs878853282 | 1.000 | 9 | 109141466 | inframe deletion | CCT/- | delins | 2.0E-05 | 2.7E-04 | 4 | ||
| rs878853283 | 1.000 | 9 | 109149675 | frameshift variant | -/T | delins | 4 | ||||
| rs1064794533 | 0.882 | 0.080 | 16 | 56336846 | missense variant | G/A | snv | 4 | |||
| rs587777057 | 0.827 | 0.040 | 16 | 56336744 | missense variant | G/A | snv | 3 | |||
| rs1554504684 | 1.000 | 8 | 23007711 | missense variant | G/A | snv | 3 | ||||
| rs796065306 | 1.000 | 0.080 | 3 | 123319754 | missense variant | C/T | snv | 1 | |||
| rs864309484 | 1.000 | 0.080 | 3 | 123291354 | missense variant | A/T | snv | 1 | |||
| rs121918304 | 0.925 | 0.080 | 22 | 32498453 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 | 1 |