| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1031744496 | 0.925 | 0.080 | 1 | 179551453 | splice acceptor variant | T/G | snv | 2 | |||
| rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
| rs1057516395 | 0.925 | 0.080 | 1 | 179564699 | frameshift variant | G/- | del | 2 | |||
| rs1057516414 | 0.925 | 0.080 | 1 | 179557080 | stop gained | G/A;T | snv | 8.0E-06 | 2 | ||
| rs1057516523 | 0.925 | 0.080 | 1 | 179552682 | splice acceptor variant | C/T | snv | 2 | |||
| rs1057516680 | 0.925 | 0.080 | 1 | 179575862 | start lost | C/A;T | snv | 2 | |||
| rs1057516747 | 0.925 | 0.080 | 1 | 179575722 | frameshift variant | -/AGCCC | delins | 7.0E-06 | 2 | ||
| rs1057516880 | 0.925 | 0.080 | 1 | 179575769 | frameshift variant | -/TA | ins | 2 | |||
| rs1057516900 | 0.925 | 0.080 | 1 | 179551262 | frameshift variant | -/G | delins | 4.0E-06 | 2 | ||
| rs1057517164 | 0.925 | 0.080 | 1 | 179552617 | stop gained | G/A | snv | 2 | |||
| rs1060499703 | 0.925 | 0.080 | 1 | 179559762 | splice acceptor variant | C/T | snv | 2 | |||
| rs1128503 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 64 | |
| rs1167223941 | 0.925 | 0.080 | 1 | 179575699 | stop gained | C/A;T | snv | 2 | |||
| rs1212702104 | 0.925 | 0.080 | 1 | 179557025 | splice donor variant | A/G | snv | 2 | |||
| rs1214047676 | 1.000 | 0.080 | 1 | 179551304 | missense variant | G/A | snv | 1 | |||
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs12240233 | 1.000 | 0.080 | 1 | 179561315 | missense variant | A/G | snv | 1 | |||
| rs12568913 | 0.925 | 0.080 | 1 | 179557179 | stop gained | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 2 | ||
| rs1272948499 | 0.925 | 0.080 | 1 | 179575709 | frameshift variant | C/- | delins | 1.4E-05 | 3 | ||
| rs1291398331 | 0.925 | 0.080 | 1 | 179557231 | splice acceptor variant | C/A | snv | 7.0E-06 | 2 | ||
| rs1320543506 | 0.925 | 0.080 | 1 | 179575760 | frameshift variant | -/C | delins | 2 | |||
| rs1340195940 | 1.000 | 0.080 | 1 | 179575782 | missense variant | T/A | snv | 2.8E-05 | 1 | ||
| rs1345260812 | 1.000 | 0.080 | 1 | 179561324 | missense variant | A/C | snv | 7.0E-06 | 1 | ||
| rs1462028977 | 0.851 | 0.080 | 1 | 179575654 | stop gained | G/A | snv | 4.3E-06 | 7.0E-06 | 4 | |
| rs1477180313 | 1.000 | 0.080 | 1 | 179575777 | stop gained | C/A;T | snv | 9.9E-06 | 1 |