Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1799889 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 31 | |||
rs11053646 | 0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 | 18 | |
rs1416580204 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 49 | |
rs679620 | 0.716 | 0.360 | 11 | 102842889 | missense variant | T/C | snv | 0.58 | 0.57 | 17 | |
rs3025058 | 0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 | 26 | ||
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs2230806 | 0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 | 24 | |
rs2740483 | 0.882 | 0.120 | 9 | 104928254 | intron variant | G/C | snv | 0.75 | 3 | ||
rs9797861 | 0.790 | 0.200 | 19 | 10632450 | intron variant | C/A;G;T | snv | 9 | |||
rs2228315 | 0.807 | 0.120 | 12 | 108624122 | missense variant | C/T | snv | 0.11 | 0.14 | 7 | |
rs599839 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 27 | |||
rs3759387 | 0.925 | 0.080 | 12 | 109574662 | intron variant | G/T | snv | 0.31 | 2 | ||
rs2287218 | 0.851 | 0.080 | 12 | 109581533 | synonymous variant | C/T | snv | 0.16 | 0.17 | 4 | |
rs1122608 | 0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 | 16 | ||
rs2200733 | 0.752 | 0.240 | 4 | 110789013 | intergenic variant | C/T | snv | 0.18 | 12 | ||
rs752596535 | 0.752 | 0.200 | 19 | 11105407 | stop gained | C/A;G;T | snv | 1.6E-05 | 14 | ||
rs688 | 0.742 | 0.400 | 19 | 11116926 | synonymous variant | C/T | snv | 0.39 | 0.34 | 16 | |
rs544456198 | 0.790 | 0.120 | 19 | 11116930 | missense variant | G/T | snv | 8.0E-06 | 2.8E-05 | 9 | |
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 92 | ||
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs7819412 | 0.827 | 0.120 | 8 | 11187652 | intron variant | G/A;T | snv | 6 | |||
rs7903146 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 93 | |||
rs231150 | 0.925 | 0.080 | 8 | 115408099 | downstream gene variant | A/T | snv | 0.55 | 2 | ||
rs2075291 | 0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 | 15 | ||
rs3135506 | 0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 | 26 |