Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs387906315 | 0.790 | 0.160 | 1 | 155240660 | frameshift variant | -/C | delins | 5.2E-05 | 5.6E-05 | 8 | |
rs1566823361 | 0.742 | 0.440 | 13 | 101726732 | frameshift variant | -/G | delins | 18 | |||
rs201435717 | 1.000 | 0.040 | 6 | 122472555 | intron variant | -/T | delins | 9.1E-03 | 1 | ||
rs200956582 | 1.000 | 0.040 | 11 | 5637380 | intron variant | A/- | del | 7.7E-03 | 1 | ||
rs4646 | 0.716 | 0.360 | 15 | 51210647 | 3 prime UTR variant | A/C | snv | 0.67 | 0.70 | 16 | |
rs3813034 | 0.827 | 0.160 | 17 | 30197786 | 3 prime UTR variant | A/C | snv | 0.40 | 8 | ||
rs112422930 | 0.882 | 0.160 | 1 | 45332409 | missense variant | A/C | snv | 7.0E-06 | 4 | ||
rs7840202 | 0.851 | 0.160 | 8 | 102296172 | intron variant | A/C | snv | 0.21 | 4 | ||
rs421016 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 30 | ||
rs876660634 | 0.807 | 0.200 | 10 | 87925551 | missense variant | A/C;G | snv | 10 | |||
rs63750306 | 0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv | 17 | |||
rs28936379 | 0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 | 10 | ||
rs1344706 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 21 | |||
rs80265967 | 0.732 | 0.200 | 21 | 31667290 | missense variant | A/C;T | snv | 1.4E-03 | 1.2E-03 | 16 | |
rs3764435 | 0.827 | 0.120 | 9 | 72901960 | intron variant | A/C;T | snv | 5 | |||
rs184904296 | 1.000 | 0.040 | 3 | 112431166 | intergenic variant | A/C;T | snv | 1 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs9340799 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 62 | ||
rs2075650 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 45 | |
rs4420638 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 43 | ||
rs57095329 | 0.677 | 0.480 | 5 | 160467840 | intron variant | A/G | snv | 7.8E-02 | 25 | ||
rs1799990 | 0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 | 23 | |
rs17125721 | 0.763 | 0.120 | 14 | 73206470 | missense variant | A/G | snv | 1.5E-02 | 1.5E-02 | 14 | |
rs1108580 | 0.790 | 0.240 | 9 | 133639992 | splice region variant | A/G | snv | 0.45 | 0.54 | 9 |