Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1245554802 | 0.851 | 0.120 | 3 | 9765892 | splice acceptor variant | T/C | snv | 4.0E-06 | 5 | ||
rs771306418 | 0.851 | 0.120 | 3 | 9765885 | splice acceptor variant | -/C | delins | 5 | |||
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 60 | ||
rs1391441 | 0.763 | 0.240 | 4 | 105207603 | intron variant | G/A | snv | 0.70 | 1 | ||
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs1801155 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 36 | |
rs1801166 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 16 | |
rs3733890 | 0.708 | 0.480 | 5 | 79126136 | missense variant | G/A | snv | 0.30 | 0.28 | 16 | |
rs2735940 | 0.689 | 0.400 | 5 | 1296371 | upstream gene variant | A/G | snv | 0.49 | 14 | ||
rs770649674 | 0.807 | 0.120 | 5 | 112827177 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 6 | |
rs2278008 | 0.851 | 0.160 | 5 | 33989413 | missense variant | C/T | snv | 0.70 | 0.74 | 4 | |
rs2287939 | 0.851 | 0.160 | 5 | 33998778 | missense variant | A/C;G | snv | 1.6E-05; 0.70 | 4 | ||
rs762117133 | 1.000 | 0.080 | 5 | 112801324 | missense variant | C/A;T | snv | 2.4E-05 | 3 | ||
rs2287780 | 0.925 | 0.080 | 5 | 7889191 | missense variant | C/T | snv | 6.1E-02 | 4.2E-02 | 2 | |
rs2303080 | 1.000 | 0.080 | 5 | 7878311 | missense variant | T/A | snv | 4.3E-02 | 3.0E-02 | 1 | |
rs1198119472 | 0.925 | 0.120 | 6 | 52799190 | synonymous variant | A/G | snv | 7.0E-06 | 2 | ||
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs3789243 | 0.776 | 0.120 | 7 | 87591570 | intron variant | A/G | snv | 0.50 | 14 | ||
rs713598 | 0.851 | 0.160 | 7 | 141973545 | missense variant | C/G | snv | 0.46 | 0.44 | 6 | |
rs10246939 | 0.851 | 0.240 | 7 | 141972804 | missense variant | T/C | snv | 0.49 | 0.47 | 4 | |
rs1726866 | 0.925 | 0.120 | 7 | 141972905 | missense variant | G/A | snv | 0.50 | 0.47 | 2 | |
rs846672 | 1.000 | 0.080 | 7 | 122990126 | downstream gene variant | A/C;T | snv | 1 | |||
rs6983267 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 55 | ||
rs10505477 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 19 | ||
rs16892766 | 0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 | 10 |