Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6785617 | 0.882 | 0.120 | 3 | 172501054 | downstream gene variant | A/T | snv | 3.7E-02 | 4 | ||
rs1024611 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 59 | ||
rs874945 | 0.732 | 0.240 | 12 | 53961667 | upstream gene variant | C/T | snv | 0.38 | 14 | ||
rs3760396 | 0.732 | 0.280 | 17 | 34254422 | upstream gene variant | G/C | snv | 0.15 | 13 | ||
rs8037137 | 0.807 | 0.160 | 15 | 90963407 | upstream gene variant | T/C | snv | 0.19 | 6 | ||
rs7246045 | 0.882 | 0.120 | 19 | 49042825 | upstream gene variant | T/G | snv | 2.9E-02 | 5 | ||
rs3814113 | 0.827 | 0.200 | 9 | 16915023 | upstream gene variant | T/C | snv | 0.41 | 3 | ||
rs67397200 | 0.827 | 0.160 | 19 | 17290595 | upstream gene variant | C/G | snv | 0.27 | 3 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 98 | ||
rs267607911 | 0.851 | 0.200 | 2 | 47403192 | start lost | A/C;G;T | snv | 5.1E-05; 1.4E-05 | 8 | ||
rs904571820 | 0.851 | 0.160 | 6 | 151842664 | start lost | A/G | snv | 4.0E-06 | 5 | ||
rs3020450 | 0.807 | 0.200 | 14 | 64301584 | splice region variant | C/A;T | snv | 10 | |||
rs876660702 | 0.851 | 0.160 | 17 | 43063333 | splice region variant | C/T | snv | 4 | |||
rs7526063 | 0.882 | 0.120 | 1 | 236808698 | splice region variant | C/T | snv | 3.8E-02 | 5.6E-02 | 3 | |
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 213 | |||
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs80357796 | 0.752 | 0.240 | 17 | 43094464 | frameshift variant | T/- | del | 10 | |||
rs80357750 | 0.790 | 0.200 | 17 | 43115759 | frameshift variant | G/- | delins | 6 | |||
rs886039920 | 0.807 | 0.160 | 17 | 43115755 | frameshift variant | ACAGG/- | delins | 6 | |||
rs1131691022 | 0.827 | 0.160 | 17 | 7670685 | frameshift variant | GG/A;G | delins | 4 | |||
rs1321845532 | 0.851 | 0.160 | 17 | 7670685 | frameshift variant | GG/A;G | delins | 4 | |||
rs80357517 | 0.827 | 0.200 | 17 | 43092277 | frameshift variant | -/T | delins | 3 | |||
rs587776650 | 0.790 | 0.280 | 8 | 89971214 | frameshift variant | GTTTT/- | delins | 2.0E-04 | 1 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs5275 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 55 |