| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057519745 | 1.000 | 0.040 | 11 | 32396363 | frameshift variant | -/ACCGTACA | ins | 1 | |||
| rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 1 | |||
| rs137852732 | 1.000 | 0.040 | 19 | 33302095 | frameshift variant | -/CA | delins | 1 | |||
| rs762890562 | 0.925 | 0.040 | 5 | 177515944 | stop gained | -/CATC | delins | 8.7E-05 | 7.0E-05 | 2 | |
| rs1057519744 | 1.000 | 0.040 | 5 | 171410542 | frameshift variant | -/CATG;CCTG;TCAG;TCTG | ins | 1 | |||
| rs1554138188 | 1.000 | 0.040 | 5 | 171410541 | frameshift variant | -/CATG;CGTG | delins | 1 | |||
| rs606231202 | 1.000 | 0.040 | 12 | 25245355 | inframe insertion | -/CCA | delins | 1 | |||
| rs587776849 | 1.000 | 0.040 | 19 | 33302200 | frameshift variant | -/CCGG | delins | 1 | |||
| rs1554138189 | 1.000 | 0.040 | 5 | 171410540 | frameshift variant | -/CCTG | delins | 1 | |||
| rs137852733 | 1.000 | 0.040 | 19 | 33302197 | frameshift variant | -/G | ins | 1 | |||
| rs1555742295 | 1.000 | 0.040 | 19 | 33302295 | frameshift variant | -/G | delins | 1 | |||
| rs1555741967 | 1.000 | 0.040 | 19 | 33301463 | inframe insertion | -/GCTCCAGCACCTTCTGCTGCGTCTCCA | delins | 1 | |||
| rs587776710 | 1.000 | 0.040 | 12 | 11890994 | protein altering variant | -/GGG | ins | 1 | |||
| rs137852731 | 1.000 | 0.040 | 19 | 33302213 | frameshift variant | -/TAGG | delins | 1 | |||
| rs398122514 | 1.000 | 0.040 | 13 | 28018487 | inframe insertion | -/TCCGGA | delins | 4.0E-06 | 1 | ||
| rs587776806 | 1.000 | 0.040 | 5 | 171410539 | frameshift variant | -/TCTG | delins | 1 | |||
| rs1555741948 | 1.000 | 0.040 | 19 | 33301423 | inframe insertion | -/TTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTG | delins | 1 | |||
| rs1562206791 | 0.925 | 0.080 | 5 | 177210250 | frameshift variant | A/- | delins | 2 | |||
| rs2072671 | 0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 | 2 | |
| rs758801 | 1.000 | 0.040 | 3 | 52502292 | intron variant | A/C | snv | 0.86 | 2 | ||
| rs7929543 | 0.925 | 0.120 | 11 | 49329474 | intron variant | A/C | snv | 0.12 | 2 | ||
| rs10062083 | 1.000 | 0.040 | 5 | 9130861 | intron variant | A/C | snv | 0.11 | 1 | ||
| rs10063061 | 1.000 | 0.040 | 5 | 126608051 | intron variant | A/C | snv | 0.26 | 1 | ||
| rs10092799 | 1.000 | 0.040 | 8 | 13757626 | intergenic variant | A/C | snv | 8.3E-02 | 1 | ||
| rs10094221 | 1.000 | 0.040 | 8 | 93155425 | intron variant | A/C | snv | 0.36 | 1 |