Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1800470 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 107 | ||
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs1800947 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 28 | ||
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs201058276 | 0.776 | 0.240 | 13 | 113118731 | missense variant | G/A;C | snv | 4.8E-05; 4.0E-06 | 11 | ||
rs20417 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 57 | |||
rs2043211 | 0.653 | 0.480 | 19 | 48234449 | missense variant | A/T | snv | 0.33 | 0.29 | 29 | |
rs20455 | 0.763 | 0.160 | 6 | 39357302 | missense variant | A/G | snv | 0.41 | 0.49 | 12 | |
rs2066718 | 0.882 | 0.120 | 9 | 104826974 | missense variant | C/G;T | snv | 4.3E-04; 5.4E-02 | 7 | ||
rs2070600 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 82 | |
rs2138533 | 1.000 | 0.120 | 2 | 188972486 | upstream gene variant | T/A;C | snv | 3 | |||
rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 57 | ||
rs2230806 | 0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 | 24 | |
rs2234693 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 77 | ||
rs2266780 | 0.827 | 0.280 | 1 | 171114102 | missense variant | A/G | snv | 0.15 | 0.14 | 9 | |
rs2359612 | 0.851 | 0.120 | 16 | 31092475 | intron variant | A/G | snv | 0.66 | 7 | ||
rs261332 | 0.851 | 0.120 | 15 | 58435126 | non coding transcript exon variant | A/G | snv | 0.80 | 20 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs3135506 | 0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 | 26 | ||
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 92 | ||
rs375752214 | 0.708 | 0.400 | 7 | 150998541 | missense variant | C/T | snv | 4.1E-06 | 4.2E-05 | 22 | |
rs3918242 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 54 | ||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 |