Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121918416 | 0.882 | 0.160 | 5 | 151851440 | missense variant | C/T | snv | 4 | |||
rs121918413 | 1.000 | 0.120 | 5 | 151851470 | missense variant | G/T | snv | 3 | |||
rs121918410 | 1.000 | 0.120 | 5 | 151829060 | missense variant | T/C;G | snv | 4.0E-06 | 2 | ||
rs281864919 | 1.000 | 0.120 | 5 | 151822764 | missense variant | C/T | snv | 4.8E-05 | 2 | ||
rs281864921 | 1.000 | 0.120 | 5 | 151829059 | frameshift variant | A/- | del | 2 | |||
rs121918408 | 1.000 | 0.120 | 5 | 151851406 | missense variant | C/A;T | snv | 2 | |||
rs121918409 | 1.000 | 0.120 | 5 | 151851487 | missense variant | A/T | snv | 2 | |||
rs121918415 | 1.000 | 0.120 | 5 | 151855047 | stop gained | G/A;T | snv | 2 | |||
rs121918417 | 1.000 | 0.120 | 5 | 151851525 | missense variant | G/C | snv | 2 | |||
rs1467252662 | 5 | 151851530 | missense variant | G/T | snv | 4.0E-06 | 2 | ||||
rs202247813 | 1.000 | 0.160 | 5 | 151855144 | missense variant | C/G | snv | 2 | |||
rs121909749 | 1.000 | 4 | 157143807 | missense variant | G/A | snv | 2 | ||||
rs281864922 | 1.000 | 4 | 157136891 | splice region variant | G/A | snv | 4.8E-05 | 3.5E-05 | 2 | ||
rs121918411 | 1.000 | 0.120 | 5 | 151851420 | missense variant | C/A;G | snv | 2 | |||
rs121918412 | 1.000 | 0.120 | 5 | 151851392 | missense variant | T/C | snv | 2 | |||
rs267606848 | 1.000 | 0.120 | 5 | 151851418 | missense variant | C/T | snv | 2 | |||
rs121908493 | 1.000 | 11 | 20617755 | stop gained | C/A | snv | 8.0E-06 | 3.5E-05 | 2 | ||
rs121908494 | 1.000 | 11 | 20628056 | missense variant | A/G | snv | 1.2E-05 | 3.5E-05 | 2 | ||
rs121908495 | 1.000 | 11 | 20638477 | stop gained | C/T | snv | 4.0E-06 | 2 | |||
rs121908496 | 1.000 | 11 | 20607583 | missense variant | C/G | snv | 2 | ||||
rs121908497 | 1.000 | 11 | 20630717 | missense variant | A/G | snv | 4.0E-06 | 2 | |||
rs121908498 | 1.000 | 11 | 20626721 | missense variant | C/A;T | snv | 8.0E-06; 3.6E-05 | 2 | |||
rs281864924 | 1.000 | 11 | 20626741 | frameshift variant | G/TT | delins | 2 | ||||
rs281864926 | 1.000 | 11 | 20630721 | missense variant | T/G | snv | 4.0E-06 | 2 | |||
rs745539706 | 1.000 | 11 | 20626733 | missense variant | C/T | snv | 8.0E-06 | 2 |