| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121908188 | 0.742 | 0.360 | 1 | 25809753 | missense variant | G/A;C | snv | 1.8E-04 | 25 | ||
| rs199564797 | 0.742 | 0.360 | 1 | 25809150 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 25 | |
| rs745886248 | 0.742 | 0.360 | 1 | 25811710 | missense variant | G/A;C;T | snv | 4.3E-06; 4.3E-06; 4.3E-06 | 25 | ||
| rs765379963 | 0.701 | 0.520 | 1 | 165743172 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 | 19 | |
| rs869320624 | 0.776 | 0.400 | 1 | 19220814 | frameshift variant | AAGG/- | delins | 1.4E-05 | 13 | ||
| rs2281894 | 1.000 | 0.040 | 1 | 109267922 | synonymous variant | C/A | snv | 0.22 | 0.17 | 1 | |
| rs267607261 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 28 | ||
| rs368900406 | 0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 | 27 | |
| rs587776917 | 0.776 | 0.200 | 2 | 232485937 | stop gained | -/T | delins | 13 | |||
| rs28937581 | 0.827 | 0.160 | 2 | 71570300 | missense variant | G/T | snv | 1.2E-05 | 9 | ||
| rs797045164 | 0.851 | 0.120 | 2 | 240785063 | missense variant | G/A | snv | 8 | |||
| rs886041287 | 0.882 | 0.160 | 2 | 178535594 | frameshift variant | -/GT | delins | 8 | |||
| rs1553403917 | 0.807 | 0.320 | 2 | 73451171 | frameshift variant | -/A | delins | 7 | |||
| rs10510181 | 0.882 | 0.200 | 3 | 149364 | intron variant | G/A | snv | 0.31 | 4 | ||
| rs1400180 | 1.000 | 0.040 | 3 | 129285 | intron variant | T/G | snv | 0.37 | 1 | ||
| rs1400182 | 1.000 | 0.040 | 3 | 128928 | intron variant | C/G;T | snv | 1 | |||
| rs1568097 | 1.000 | 0.040 | 3 | 138468 | intron variant | T/C | snv | 0.42 | 1 | ||
| rs1588962 | 1.000 | 0.040 | 3 | 142352 | intron variant | T/C | snv | 0.32 | 1 | ||
| rs17326792 | 1.000 | 0.040 | 3 | 131073 | non coding transcript exon variant | A/G;T | snv | 1 | |||
| rs1878169 | 1.000 | 0.040 | 3 | 123429 | intron variant | A/T | snv | 0.32 | 1 | ||
| rs4684051 | 1.000 | 0.040 | 3 | 136842 | intron variant | A/G | snv | 0.34 | 1 | ||
| rs7639674 | 1.000 | 0.040 | 3 | 130837 | non coding transcript exon variant | A/T | snv | 0.31 | 1 | ||
| rs965084 | 1.000 | 0.040 | 3 | 125415 | intron variant | G/C | snv | 0.31 | 1 | ||
| rs9819101 | 1.000 | 0.040 | 3 | 124824 | intron variant | G/A;C | snv | 0.35 | 1 | ||
| rs121913482 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 45 |