Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6318 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 42 | |||
rs12134493 | 0.925 | 0.040 | 1 | 115135325 | TF binding site variant | C/A | snv | 9.2E-02 | 4 | ||
rs6478241 | 0.925 | 0.040 | 9 | 116490350 | intron variant | A/G;T | snv | 3 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs3761555 | 1.000 | 0.040 | X | 123182584 | upstream gene variant | T/C | snv | 0.38 | 2 | ||
rs9349379 | 0.732 | 0.200 | 6 | 12903725 | intron variant | A/G | snv | 0.32 | 19 | ||
rs2820651 | 1.000 | 0.040 | 10 | 1429570 | intron variant | C/A | snv | 0.14 | 2 | ||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs2234693 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 77 | ||
rs1801132 | 0.689 | 0.320 | 6 | 151944387 | synonymous variant | G/C | snv | 0.73 | 0.80 | 22 | |
rs2195450 | 0.925 | 0.040 | 5 | 153491449 | intron variant | G/A | snv | 0.17 | 3 | ||
rs1799971 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 95 | |
rs2274316 | 0.925 | 0.040 | 1 | 156476450 | intron variant | C/A | snv | 0.62 | 0.54 | 3 | |
rs35737760 | 0.925 | 0.040 | 1 | 181732663 | missense variant | T/A | snv | 0.13 | 0.13 | 3 | |
rs7015657 | 1.000 | 0.040 | 8 | 21110040 | intron variant | C/G | snv | 0.30 | 2 | ||
rs1006737 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 27 | ||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs10166942 | 0.925 | 0.040 | 2 | 233916448 | upstream gene variant | T/C | snv | 0.40 | 4 | ||
rs6741751 | 0.925 | 0.040 | 2 | 233919016 | intron variant | G/A | snv | 7.8E-02 | 3 | ||
rs2049046 | 0.827 | 0.200 | 11 | 27702228 | intron variant | T/A | snv | 0.48 | 6 | ||
rs12273363 | 0.807 | 0.120 | 11 | 27723312 | intron variant | T/C | snv | 0.16 | 11 | ||
rs2986961 | 1.000 | 0.040 | 10 | 29798430 | regulatory region variant | C/T | snv | 0.65 | 2 | ||
rs1979572 | 1.000 | 0.040 | 17 | 30184960 | synonymous variant | G/A | snv | 0.52 | 0.49 | 2 | |
rs2066713 | 0.807 | 0.200 | 17 | 30224647 | intron variant | G/A | snv | 0.34 | 9 |