Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs763802417 | 0.882 | 0.040 | X | 100862805 | missense variant | G/A | snv | 5.9E-06 | 5 | ||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs755622 | 0.611 | 0.720 | 22 | 23894205 | intron variant | G/C | snv | 0.26 | 44 | ||
rs4818 | 0.683 | 0.440 | 22 | 19963684 | synonymous variant | C/G;T | snv | 0.34 | 27 | ||
rs1065852 | 0.695 | 0.360 | 22 | 42130692 | missense variant | G/A | snv | 0.21 | 0.19 | 19 | |
rs2254638 | 0.882 | 0.040 | 21 | 28883961 | intron variant | A/C;G | snv | 3 | |||
rs428785 | 0.882 | 0.040 | 21 | 26844276 | missense variant | C/A;G;T | snv | 1.3E-05; 0.70 | 0.78 | 3 | |
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs17576 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 73 | |
rs3918242 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 54 | ||
rs1042579 | 0.732 | 0.240 | 20 | 23048087 | missense variant | G/A;T | snv | 0.19 | 16 | ||
rs2295490 | 0.724 | 0.320 | 20 | 388261 | missense variant | A/G;T | snv | 0.18; 4.0E-06 | 16 | ||
rs147377392 | 0.763 | 0.120 | 20 | 23048144 | missense variant | A/G | snv | 1.0E-04 | 2.8E-04 | 11 | |
rs911119 | 0.807 | 0.120 | 20 | 23632100 | non coding transcript exon variant | C/G;T | snv | 9 | |||
rs1223493898 | 0.851 | 0.120 | 20 | 44406090 | missense variant | G/A;C | snv | 5 | |||
rs16998248 | 0.882 | 0.040 | 20 | 53581801 | synonymous variant | T/A | snv | 0.11 | 8.8E-02 | 3 | |
rs35720349 | 0.882 | 0.040 | 20 | 53577121 | missense variant | G/A | snv | 3.4E-02 | 1.6E-02 | 3 | |
rs753630955 | 0.882 | 0.040 | 20 | 38161510 | stop gained | G/A;T | snv | 2.0E-05 | 3 | ||
rs901895948 | 0.882 | 0.040 | 20 | 38131160 | missense variant | C/T | snv | 3 | |||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs12979860 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 84 | ||
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs4420638 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 43 | ||
rs2043211 | 0.653 | 0.480 | 19 | 48234449 | missense variant | A/T | snv | 0.33 | 0.29 | 29 |