Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs180749 | 1.000 | 0.040 | 5 | 35033500 | missense variant | G/A | snv | 0.95 | 0.94 | 1 | |
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs662799 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 33 | ||
rs1883832 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 52 | |
rs1051931 | 0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 | 19 | |
rs4821480 | 0.807 | 0.160 | 22 | 36299201 | intron variant | G/T | snv | 0.78 | 9 | ||
rs646776 | 0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 | 25 | ||
rs2972146 | 0.882 | 0.040 | 2 | 226235982 | intergenic variant | G/T | snv | 0.72 | 9 | ||
rs5743810 | 0.689 | 0.360 | 4 | 38828729 | missense variant | A/G | snv | 0.73 | 0.72 | 21 | |
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs4916251 | 0.882 | 0.040 | 1 | 172377256 | intron variant | T/A | snv | 0.70 | 3 | ||
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 | ||
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 119 | ||
rs2943641 | 0.763 | 0.160 | 2 | 226229029 | intergenic variant | T/C | snv | 0.67 | 18 | ||
rs4523 | 0.776 | 0.280 | 19 | 3595796 | missense variant | A/G | snv | 0.56 | 0.66 | 8 | |
rs1867624 | 0.851 | 0.080 | 17 | 64309731 | upstream gene variant | C/T | snv | 0.65 | 4 | ||
rs6903956 | 0.763 | 0.160 | 6 | 11774350 | intron variant | A/G | snv | 0.65 | 10 | ||
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 72 | |
rs9370867 | 0.827 | 0.120 | 6 | 16145094 | missense variant | A/G | snv | 0.60 | 0.63 | 7 | |
rs1927911 | 0.658 | 0.640 | 9 | 117707776 | intron variant | A/G | snv | 0.62 | 28 | ||
rs7216389 | 0.732 | 0.440 | 17 | 39913696 | intron variant | C/T | snv | 0.60 | 14 | ||
rs2943650 | 0.827 | 0.120 | 2 | 226241205 | intergenic variant | C/T | snv | 0.58 | 6 | ||
rs405509 | 0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 | 30 | ||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 |