| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057519744 | 1.000 | 0.040 | 5 | 171410542 | frameshift variant | -/CATG;CCTG;TCAG;TCTG | ins | 1 | |||
| rs1057519745 | 1.000 | 0.040 | 11 | 32396363 | frameshift variant | -/ACCGTACA | ins | 1 | |||
| rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 1 | |||
| rs137852733 | 1.000 | 0.040 | 19 | 33302197 | frameshift variant | -/G | ins | 1 | |||
| rs587776710 | 1.000 | 0.040 | 12 | 11890994 | protein altering variant | -/GGG | ins | 1 | |||
| rs1057519709 | 0.925 | 0.080 | 4 | 54733154 | missense variant | GA/AT | mnv | 1 | |||
| rs1057519763 | 1.000 | 0.040 | 13 | 28018504 | missense variant | TC/AA | mnv | 1 | |||
| rs727503094 | 0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv | 1 | |||
| rs1060502121 | 1.000 | 0.040 | 19 | 33302225 | frameshift variant | TGTCG/- | del | 1 | |||
| rs121913486 | 1.000 | 0.040 | 13 | 28018503 | inframe deletion | ATC/- | del | 1 | |||
| rs1562206791 | 0.925 | 0.080 | 5 | 177210250 | frameshift variant | A/- | delins | 2 | |||
| rs762890562 | 0.925 | 0.040 | 5 | 177515944 | stop gained | -/CATC | delins | 8.7E-05 | 7.0E-05 | 2 | |
| rs121913490 | 1.000 | 0.040 | 13 | 28018498 | inframe deletion | GAT/- | delins | 1 | |||
| rs137852728 | 1.000 | 0.040 | 19 | 33302347 | frameshift variant | G/-;GG | delins | 1 | |||
| rs137852730 | 1.000 | 0.040 | 19 | 33302274 | frameshift variant | G/- | delins | 1 | |||
| rs137852731 | 1.000 | 0.040 | 19 | 33302213 | frameshift variant | -/TAGG | delins | 1 | |||
| rs137852732 | 1.000 | 0.040 | 19 | 33302095 | frameshift variant | -/CA | delins | 1 | |||
| rs1554138188 | 1.000 | 0.040 | 5 | 171410541 | frameshift variant | -/CATG;CGTG | delins | 1 | |||
| rs1554138189 | 1.000 | 0.040 | 5 | 171410540 | frameshift variant | -/CCTG | delins | 1 | |||
| rs1555741948 | 1.000 | 0.040 | 19 | 33301423 | inframe insertion | -/TTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTG | delins | 1 | |||
| rs1555741967 | 1.000 | 0.040 | 19 | 33301463 | inframe insertion | -/GCTCCAGCACCTTCTGCTGCGTCTCCA | delins | 1 | |||
| rs1555742213 | 1.000 | 0.040 | 19 | 33302076 | frameshift variant | GGGCGCGC/- | delins | 1 | |||
| rs1555742295 | 1.000 | 0.040 | 19 | 33302295 | frameshift variant | -/G | delins | 1 | |||
| rs1561878500 | 1.000 | 0.040 | 5 | 171410549 | frameshift variant | GGAGGAA/CCCTGGCTAGG | delins | 1 | |||
| rs398122514 | 1.000 | 0.040 | 13 | 28018487 | inframe insertion | -/TCCGGA | delins | 4.0E-06 | 1 |