Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs867410737 | 0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 | 42 | ||
rs386134243 | 0.708 | 0.360 | 1 | 156135967 | missense variant | C/A;T | snv | 4.0E-06 | 16 | ||
rs58596362 | 0.827 | 0.280 | 1 | 156138613 | splice region variant | C/A;T | snv | 8.1E-06 | 4 | ||
rs766265889 | 0.827 | 0.240 | 2 | 178535508 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 11 | ||
rs114638163 | 0.827 | 0.240 | 13 | 23805994 | stop gained | C/A;T | snv | 4.0E-06; 1.3E-03 | 10 | ||
rs574660186 | 0.807 | 0.200 | 2 | 178579702 | stop gained | G/A;C | snv | 1.6E-05 | 3.5E-05 | 7 | |
rs397516248 | 0.851 | 0.200 | 14 | 23415153 | missense variant | C/T | snv | 5 | |||
rs60682848 | 0.790 | 0.200 | 1 | 156134838 | stop gained | C/T | snv | 7.0E-06 | 4 | ||
rs56984562 | 0.827 | 0.200 | 1 | 156137666 | missense variant | C/A;G;T | snv | 3 | |||
rs201754030 | 0.925 | 0.200 | 12 | 57796461 | stop gained | C/T | snv | 1.5E-03 | 1.3E-03 | 2 | |
rs62636495 | 0.925 | 0.200 | 2 | 219418500 | missense variant | C/A;T | snv | 2 | |||
rs397517689 | 0.882 | 0.160 | 2 | 178574530 | stop gained | G/A | snv | 4.0E-06 | 5 | ||
rs267607490 | 0.925 | 0.160 | 2 | 219425734 | missense variant | C/T | snv | 4 | |||
rs28933091 | 0.882 | 0.160 | 1 | 156134474 | missense variant | C/A;G | snv | 4 | |||
rs397517735 | 0.925 | 0.160 | 2 | 178559309 | splice donor variant | A/T | snv | 4.4E-06 | 4.9E-05 | 4 | |
rs72646846 | 0.925 | 0.160 | 2 | 178589849 | stop gained | G/A | snv | 7.6E-05 | 6.3E-05 | 4 | |
rs72648250 | 0.882 | 0.160 | 2 | 178548460 | stop gained | G/A;T | snv | 4.0E-06; 8.1E-06 | 4 | ||
rs727503607 | 0.882 | 0.160 | 2 | 178605642 | stop gained | C/A | snv | 4 | |||
rs727505319 | 0.925 | 0.160 | 2 | 178542263 | splice donor variant | C/G;T | snv | 4.2E-06 | 4 | ||
rs112188483 | 0.925 | 0.160 | 2 | 178528273 | splice donor variant | C/G;T | snv | 1.2E-05 | 3 | ||
rs121912997 | 0.925 | 0.160 | 6 | 7579989 | stop gained | C/G;T | snv | 3 | |||
rs121913647 | 0.925 | 0.160 | 14 | 23417173 | missense variant | C/A;G;T | snv | 1.6E-05 | 3 | ||
rs150974575 | 1.000 | 0.160 | 2 | 219423817 | stop gained | C/T | snv | 1.2E-05 | 3 | ||
rs1559415567 | 0.925 | 0.160 | 2 | 178572564 | frameshift variant | G/- | delins | 3 | |||
rs28933093 | 0.882 | 0.160 | 1 | 156130741 | missense variant | G/A | snv | 3 |