Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs80338903 | 0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 | 25 | |
rs137852834 | 0.763 | 0.280 | 12 | 88083936 | stop gained | T/A | snv | 5.5E-05 | 9.1E-05 | 12 | |
rs1800728 | 0.807 | 0.080 | 1 | 94011395 | intron variant | A/G | snv | 2.3E-04 | 3.0E-04 | 8 | |
rs61751374 | 0.776 | 0.160 | 1 | 94043413 | missense variant | G/A | snv | 1.7E-03 | 1.7E-03 | 8 | |
rs1800553 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 7 | |
rs61750641 | 0.790 | 0.080 | 1 | 94005499 | missense variant | C/T | snv | 3.5E-04 | 4.7E-04 | 7 | |
rs281865377 | 0.807 | 0.080 | 1 | 94029447 | frameshift variant | G/-;GG | delins | 2.1E-05 | 6 | ||
rs62645944 | 0.807 | 0.080 | 1 | 94098794 | splice region variant | C/A | snv | 8.8E-05 | 6.3E-05 | 6 | |
rs771454167 | 0.827 | 0.240 | 12 | 88062772 | frameshift variant | C/- | del | 4.7E-05; 5.2E-06 | 2.1E-05 | 6 | |
rs777103184 | 0.827 | 0.040 | 2 | 29073071 | stop gained | C/T | snv | 8.0E-06 | 6 | ||
rs137853006 | 0.776 | 0.080 | 4 | 16013299 | missense variant | G/A | snv | 6 | |||
rs61751392 | 0.827 | 0.080 | 1 | 94063250 | missense variant | A/G | snv | 1.5E-04 | 1.7E-04 | 5 | |
rs398124615 | 0.827 | 0.080 | 1 | 197328844 | inframe insertion | AATTGATGG/-;AATTGATGGAATTGATGG | delins | 7.7E-04 | 5 | ||
rs1553348960 | 0.882 | 0.080 | 2 | 55870851 | missense variant | A/G | snv | 5 | |||
rs751163782 | 0.882 | 0.040 | 4 | 13369888 | missense variant | A/C;G | snv | 4.0E-06; 1.2E-05 | 5 | ||
rs875989778 | 0.882 | 0.040 | 4 | 13479429 | splice donor variant | C/G | snv | 5 | |||
rs201471607 | 0.851 | 0.080 | 1 | 94046943 | missense variant | T/C | snv | 1.4E-04 | 7.7E-05 | 4 | |
rs62625014 | 0.851 | 0.080 | 4 | 47937535 | missense variant | G/A;C | snv | 1.1E-03; 2.4E-05 | 4 | ||
rs61751263 | 0.882 | 0.080 | 1 | 94060760 | splice acceptor variant | C/T | snv | 4.2E-06 | 1.4E-05 | 3 | |
rs61751402 | 0.882 | 0.080 | 1 | 94029515 | missense variant | C/T | snv | 6.3E-05 | 5.6E-05 | 3 | |
rs778234759 | 0.925 | 0.040 | 1 | 94018445 | intron variant | C/T | snv | 1.3E-04 | 3 | ||
rs1553515435 | 0.925 | 0.040 | 2 | 181566055 | splice region variant | T/C | snv | 3 | |||
rs398122391 | 0.882 | 0.160 | 21 | 45510091 | frameshift variant | CT/- | del | 3.0E-04 | 2.9E-04 | 3 | |
rs62635654 | 0.851 | 0.080 | 1 | 197427615 | missense variant | C/G;T | snv | 4.0E-06; 7.6E-05 | 3 | ||
rs62636273 | 0.882 | 0.080 | 1 | 197429460 | stop gained | T/A;C | snv | 3.2E-05 | 3 |