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 | ||
rs7748275 | 0.882 | 0.120 | 6 | 3580855 | downstream gene variant | T/A | snv | 8.2E-02 | 3 | ||
rs1024611 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 63 | ||
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
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 | ||
rs16949649 | 0.776 | 0.200 | 17 | 51152947 | upstream gene variant | T/C | snv | 0.39 | 12 | ||
rs8037137 | 0.807 | 0.160 | 15 | 90963407 | upstream gene variant | T/C | snv | 0.19 | 8 | ||
rs3814113 | 0.827 | 0.200 | 9 | 16915023 | upstream gene variant | T/C | snv | 0.41 | 5 | ||
rs633862 | 0.925 | 0.120 | 9 | 133279871 | upstream gene variant | T/C | snv | 0.49 | 5 | ||
rs67397200 | 0.827 | 0.160 | 19 | 17290595 | upstream gene variant | C/G | snv | 0.27 | 5 | ||
rs7246045 | 0.882 | 0.120 | 19 | 49042825 | upstream gene variant | T/G | snv | 2.9E-02 | 5 | ||
rs142091544 | 0.925 | 0.120 | 5 | 168286995 | upstream gene variant | C/T | snv | 2.1E-02 | 2 | ||
rs17702471 | 0.925 | 0.120 | 13 | 93224864 | upstream gene variant | A/G | snv | 0.16 | 2 | ||
rs7501462 | 0.925 | 0.120 | 17 | 16974091 | upstream gene variant | A/G | snv | 0.31 | 2 | ||
rs9609538 | 0.925 | 0.120 | 22 | 32413845 | upstream gene variant | T/C | snv | 0.34 | 2 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
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 | |||
rs2303428 | 0.776 | 0.240 | 2 | 47476361 | splice region variant | T/A;C;G | snv | 4.0E-06; 0.12 | 9 | ||
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 | 214 | |||
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 |