| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs2145418 | 0.882 | 0.080 | 1 | 118422631 | intergenic variant | C/A | snv | 0.78 | 3 | ||
| rs4833837 | 0.827 | 0.200 | 4 | 122615808 | synonymous variant | G/A | snv | 0.74 | 0.77 | 5 | |
| rs2221903 | 0.752 | 0.360 | 4 | 122617757 | intron variant | C/T | snv | 0.77 | 12 | ||
| rs13143866 | 0.851 | 0.200 | 4 | 122619603 | intron variant | G/A | snv | 0.24 | 4 | ||
| rs12508721 | 0.742 | 0.360 | 4 | 122623509 | intron variant | C/T | snv | 0.24 | 11 | ||
| rs6983267 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 62 | ||
| rs10069690 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 53 | ||
| rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 83 | ||
| rs12769288 | 0.882 | 0.080 | 10 | 129488086 | intron variant | C/T | snv | 0.10 | 3 | ||
| rs145475805 | 0.882 | 0.080 | 8 | 132887509 | missense variant | A/G | snv | 8.8E-05 | 3.3E-04 | 4 | |
| rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
| rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
| rs2060793 | 0.776 | 0.240 | 11 | 14893764 | upstream gene variant | A/G | snv | 0.63 | 11 | ||
| rs1248131654 | 0.851 | 0.080 | 2 | 160367217 | missense variant | G/A | snv | 1.4E-05 | 4 | ||
| rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
| rs17849071 | 0.776 | 0.160 | 3 | 179218439 | intron variant | T/G | snv | 7.9E-02 | 8 | ||
| rs1418810723 | 0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 | 9 | ||
| rs966423 | 0.776 | 0.200 | 2 | 217445617 | intron variant | C/G;T | snv | 11 | |||
| rs1136410 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 70 | |
| rs2241880 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 37 | |
| rs778212685 | 0.827 | 0.120 | 22 | 28712015 | missense variant | C/A;G;T | snv | 4.0E-06 | 8 | ||
| rs786203472 | 0.827 | 0.120 | 22 | 28719414 | start lost | T/C | snv | 5 | |||
| rs17879961 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 53 | ||
| rs863224748 | 0.827 | 0.120 | 22 | 28734721 | start lost | T/C | snv | 5 |