| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
| rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
| rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
| rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
| rs112445441 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 32 | |||
| rs9275572 | 0.724 | 0.360 | 6 | 32711222 | upstream gene variant | A/G;T | snv | 15 | |||
| rs2682818 | 0.742 | 0.320 | 12 | 80935757 | non coding transcript exon variant | A/C;T | snv | 0.83 | 14 | ||
| rs2228479 | 0.763 | 0.280 | 16 | 89919532 | missense variant | G/A;C | snv | 7.8E-02; 4.0E-06 | 11 | ||
| rs1308699981 | 0.807 | 0.440 | 1 | 161543085 | missense variant | G/A | snv | 4.0E-06 | 7 | ||
| rs3020314 | 0.790 | 0.280 | 6 | 151949537 | intron variant | C/G;T | snv | 7 | |||
| rs3212961 | 0.827 | 0.200 | 19 | 45419065 | intron variant | G/A;T | snv | 1.9E-04; 0.20 | 7 | ||
| rs12355840 | 0.827 | 0.240 | 10 | 133247608 | non coding transcript exon variant | C/G;T | snv | 1.1E-04; 0.80 | 5 | ||
| rs1056503 | 0.851 | 0.200 | 5 | 83353158 | synonymous variant | T/A;G | snv | 4.0E-06; 0.23 | 4 | ||
| rs587781386 | 0.882 | 0.120 | 17 | 7674889 | missense variant | A/C;G | snv | 3.2E-05; 4.0E-06 | 3 | ||
| rs587776632 | 0.925 | 0.120 | 1 | 85267901 | frameshift variant | A/-;AAA | delins | 2 | |||
| rs6444305 | 0.925 | 0.120 | 3 | 188582114 | intron variant | G/A;C;T | snv | 2 | |||
| rs9275245 | 0.925 | 0.160 | 6 | 32693166 | intergenic variant | A/G;T | snv | 2 | |||
| rs1159838942 | 1.000 | 0.120 | 11 | 36574757 | missense variant | C/A;T | snv | 1 | |||
| rs28530648 | 1.000 | 0.120 | 6 | 32559302 | intron variant | A/C;T | snv | 1 | |||
| rs587776633 | 1.000 | 0.120 | 1 | 85270732 | frameshift variant | -/T | delins | 1 | |||
| rs587776634 | 1.000 | 0.120 | 1 | 85267788 | frameshift variant | TGCCTACTTCTAGAACA/- | del | 1 | |||
| rs587776635 | 1.000 | 0.120 | 1 | 85267919 | frameshift variant | T/- | delins | 1 | |||
| rs587776636 | 1.000 | 0.120 | 1 | 85267930 | frameshift variant | -/A | delins | 1 | |||
| rs587776637 | 1.000 | 0.120 | 1 | 85267692 | inframe deletion | TCT/- | delins | 1 | |||
| rs6054706 | 1.000 | 0.120 | 20 | 149223 | downstream gene variant | C/A;T | snv | 1 |