| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs552479055 | 1.000 | 0.040 | 10 | 113726306 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
| rs1268279596 | 1.000 | 0.040 | 1 | 15495419 | missense variant | G/A | snv | 8.5E-06 | 1 | ||
| rs141311765 | 1.000 | 0.040 | 1 | 43340027 | missense variant | T/C | snv | 3.4E-04 | 1.2E-03 | 1 | |
| rs770166362 | 1.000 | 0.040 | 1 | 43349298 | missense variant | C/G | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs78894077 | 1.000 | 0.040 | 12 | 111418869 | missense variant | C/T | snv | 2.7E-03 | 1.2E-03 | 1 | |
| rs746364606 | 1.000 | 0.040 | 3 | 184372642 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 1 | |
| rs148431413 | 1.000 | 0.040 | 2 | 1496134 | missense variant | T/G | snv | 6.0E-05 | 2.2E-04 | 1 | |
| rs121913454 | 0.925 | 0.080 | 9 | 130874969 | missense variant | A/G | snv | 2 | |||
| rs111340708 | 0.925 | 0.080 | 12 | 111447548 | intron variant | TGGGGTGGGGTGGGG/-;TGGGG;TGGGGTGGGG;TGGGGTGGGGTGGGGTGGGG;TGGGGTGGGGTGGGGTGGGGTGGGG | delins | 0.52 | 2 | ||
| rs918140013 | 0.925 | 0.080 | 12 | 111447663 | missense variant | G/A | snv | 7.0E-06 | 2 | ||
| rs3808850 | 0.925 | 0.080 | 9 | 4983311 | upstream gene variant | T/A;C | snv | 2 | |||
| rs7046736 | 0.925 | 0.080 | 9 | 5015732 | intron variant | C/A | snv | 0.39 | 2 | ||
| rs1343123940 | 0.925 | 0.080 | 1 | 43339292 | frameshift variant | T/- | del | 4.0E-06 | 2 | ||
| rs587778514 | 0.925 | 0.080 | 1 | 43338564 | frameshift variant | CT/- | del | 5.2E-05 | 4.9E-05 | 2 | |
| rs562533120 | 0.882 | 0.080 | 6 | 134966397 | missense variant | A/C | snv | 8.0E-06 | 3 | ||
| rs10974947 | 0.882 | 0.080 | 9 | 5072846 | intron variant | G/A | snv | 0.23 | 3 | ||
| rs10815148 | 0.882 | 0.080 | 9 | 5057284 | intron variant | T/A | snv | 0.33 | 3 | ||
| rs318699 | 0.882 | 0.080 | 19 | 11390564 | intron variant | A/G | snv | 0.73 | 3 | ||
| rs28928907 | 0.882 | 0.160 | 1 | 43338634 | missense variant | G/A;C | snv | 8.0E-06; 3.8E-04 | 4 | ||
| rs1057520016 | 0.851 | 0.080 | 9 | 5089726 | missense variant | C/A;T | snv | 5 | |||
| rs12342421 | 0.851 | 0.080 | 9 | 5065750 | intron variant | G/C | snv | 0.23 | 5 | ||
| rs146249964 | 0.851 | 0.080 | 1 | 43337929 | splice donor variant | T/A | snv | 4.0E-04 | 1.7E-04 | 5 | |
| rs750046020 | 0.827 | 0.080 | 1 | 43338646 | missense variant | C/G;T | snv | 8.0E-06; 8.0E-05 | 6 | ||
| rs121913614 | 0.790 | 0.120 | 1 | 43349308 | missense variant | G/A | snv | 7 | |||
| rs121913616 | 0.790 | 0.120 | 1 | 43349337 | missense variant | TG/AA | mnv | 8 |