Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs386834192 | 0.925 | 0.320 | 8 | 93803685 | splice donor variant | -/T | delins | 1.4E-05 | 2 | ||
rs749435317 | 0.882 | 0.280 | 8 | 93786287 | frameshift variant | A/- | del | 3 | |||
rs758948621 | 0.925 | 0.280 | 8 | 93797329 | splice acceptor variant | A/C | snv | 4.0E-06 | 2 | ||
rs863225234 | 0.925 | 0.280 | 8 | 93808922 | missense variant | A/C | snv | 2 | |||
rs781383498 | 1.000 | 0.160 | 8 | 93799649 | missense variant | A/C | snv | 8.0E-06 | 2.1E-05 | 1 | |
rs775883520 | 0.851 | 0.240 | 8 | 93780603 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 6 | |
rs863225227 | 0.925 | 0.280 | 8 | 93780647 | missense variant | A/G | snv | 7.0E-06 | 2 | ||
rs775256658 | 1.000 | 0.160 | 8 | 93780985 | splice region variant | A/G | snv | 4.0E-06 | 1 | ||
rs863225224 | 1.000 | 0.160 | 8 | 93793299 | splice region variant | A/G | snv | 1 | |||
rs863225229 | 1.000 | 0.160 | 8 | 93780608 | missense variant | A/G | snv | 1 | |||
rs137853107 | 0.882 | 0.360 | 8 | 93791282 | missense variant | A/G;T | snv | 8.0E-06; 4.0E-06 | 3 | ||
rs137853108 | 0.851 | 0.320 | 8 | 93765617 | stop gained | A/T | snv | 1.8E-04 | 2.6E-04 | 4 | |
rs386834202 | 0.851 | 0.320 | 8 | 93765574 | frameshift variant | AG/- | del | 4.0E-06; 1.9E-04 | 5.6E-05 | 4 | |
rs863225235 | 0.790 | 0.360 | 8 | 93782444 | missense variant | C/A | snv | 4.0E-06 | 7.0E-06 | 7 | |
rs863225225 | 0.925 | 0.280 | 8 | 93797184 | missense variant | C/A | snv | 2 | |||
rs863225230 | 1.000 | 0.160 | 8 | 93804807 | missense variant | C/A | snv | 1 | |||
rs116647652 | 1.000 | 0.160 | 8 | 93786285 | stop gained | C/A;T | snv | 8.0E-06 | 1 | ||
rs751309268 | 1.000 | 0.160 | 8 | 93755854 | stop gained | C/A;T | snv | 8.1E-06 | 1 | ||
rs863225226 | 0.925 | 0.280 | 8 | 93758559 | missense variant | C/G | snv | 2 | |||
rs863225231 | 0.925 | 0.280 | 8 | 93782455 | missense variant | C/G | snv | 7.0E-06 | 2 | ||
rs751517725 | 1.000 | 0.160 | 8 | 93803652 | stop gained | C/G;T | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs772437766 | 1.000 | 0.160 | 8 | 93755799 | missense variant | C/G;T | snv | 8.6E-06 | 1 | ||
rs752362727 | 0.716 | 0.480 | 8 | 93786255 | missense variant | C/T | snv | 2.0E-05 | 22 | ||
rs863225228 | 0.925 | 0.280 | 8 | 93787884 | missense variant | C/T | snv | 2 | |||
rs863225232 | 0.925 | 0.280 | 8 | 93782402 | missense variant | C/T | snv | 7.0E-06 | 2 |