| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs886040971 | 0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv | 56 | |||
| rs1555247672 | 0.827 | 0.200 | 12 | 116007542 | stop gained | G/A | snv | 14 | |||
| rs1555206402 | 0.790 | 0.320 | 11 | 119093274 | stop lost | GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- | delins | 26 | |||
| rs397515327 | 1.000 | 0.080 | 11 | 119100785 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 1 | ||
| rs886041874 | 1.000 | 0.040 | 1 | 119721323 | splice donor variant | T/C | snv | 4.0E-06 | 2 | ||
| rs764618040 | 1.000 | 0.040 | 1 | 119726868 | missense variant | C/T | snv | 1.6E-05 | 2.1E-05 | 2 | |
| rs121434616 | 0.925 | 0.080 | X | 120544179 | stop gained | G/A | snv | 6 | |||
| rs534517447 | 0.925 | 0.160 | 11 | 120956935 | missense variant | G/A | snv | 2.9E-05 | 7.0E-06 | 4 | |
| rs869312699 | 0.925 | 0.160 | 11 | 120986102 | protein altering variant | CTGGCGCAGGAGGCC/GCT | delins | 4 | |||
| rs776300630 | 0.925 | 0.080 | 6 | 12123884 | missense variant | G/C;T | snv | 8.0E-06 | 4 | ||
| rs113993970 | 0.925 | 0.240 | 10 | 122506817 | stop gained | C/T | snv | 8.0E-06 | 3.5E-05 | 5 | |
| rs752134549 | 0.827 | 0.200 | 12 | 122517404 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 6 | |
| rs796052243 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 54 | |||
| rs1555155556 | 0.851 | 0.120 | 12 | 12435627 | splice acceptor variant | G/T | snv | 6 | |||
| rs1556620697 | 0.827 | 0.360 | X | 124365758 | splice region variant | C/G | snv | 10 | |||
| rs1565339091 | 1.000 | 0.200 | 11 | 124924796 | missense variant | T/C | snv | 4 | |||
| rs140845195 | 1.000 | 0.040 | 5 | 126545020 | splice acceptor variant | C/A;T | snv | 1.6E-05; 4.0E-06 | 3 | ||
| rs121912707 | 0.925 | 0.040 | 5 | 126552059 | missense variant | C/G | snv | 3.6E-04 | 2.4E-04 | 2 | |
| rs778003597 | 5 | 126559300 | frameshift variant | -/G | delins | 8.0E-06 | 7.0E-06 | 1 | |||
| rs121912708 | 1.000 | 0.040 | 5 | 126583997 | stop gained | G/A;C | snv | 6.0E-05; 4.0E-06 | 3 | ||
| rs1444879414 | 5 | 126595148 | frameshift variant | -/T | delins | 6.0E-06 | 1 | ||||
| rs750693623 | 1.000 | 0.040 | 5 | 126595165 | frameshift variant | C/- | del | 5.6E-04 | 2 | ||
| rs137939966 | 17 | 12752540 | missense variant | A/G | snv | 1.6E-04 | 8.4E-04 | 2 | |||
| rs1554776954 | 1.000 | 9 | 127661133 | frameshift variant | A/- | delins | 5 | ||||
| rs796053353 | 0.882 | 0.120 | 9 | 127661192 | missense variant | C/T | snv | 6 |