Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104886142 | 0.790 | 0.280 | X | 108598793 | missense variant | G/A | snv | 8.7E-05 | 4.7E-05 | 10 | |
rs200107989 | 0.882 | 0.280 | 2 | 227294985 | missense variant | C/T | snv | 2.0E-04 | 3.6E-04 | 3 | |
rs766550724 | 0.882 | 0.280 | 2 | 227007354 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 3 | |
rs1015798796 | 0.882 | 0.160 | 20 | 46725684 | stop gained | C/G | snv | 1.4E-05 | 3 | ||
rs121908172 | 1.000 | 0.160 | 20 | 46726312 | missense variant | G/A;T | snv | 4.1E-06 | 1 | ||
rs121908173 | 1.000 | 0.160 | 20 | 46725430 | missense variant | C/T | snv | 3.2E-05 | 9.8E-05 | 1 | |
rs146579504 | 1.000 | 0.160 | 20 | 46725727 | missense variant | C/G;T | snv | 1.6E-05 | 1 | ||
rs370547023 | 1.000 | 0.160 | 20 | 46726905 | stop gained | C/T | snv | 4.0E-06 | 2.1E-05 | 1 | |
rs564317065 | 1.000 | 0.160 | 20 | 46725773 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs572620317 | 1.000 | 0.160 | 20 | 46725453 | stop gained | T/A;C | snv | 8.0E-06; 8.0E-06 | 1 | ||
rs587776599 | 1.000 | 0.160 | 20 | 46725997 | frameshift variant | G/- | del | 1 | |||
rs587776600 | 1.000 | 0.160 | 20 | 46726908 | frameshift variant | G/- | delins | 1 | |||
rs753723351 | 1.000 | 0.160 | 20 | 46726909 | missense variant | G/A | snv | 1.2E-05 | 1 | ||
rs756457861 | 1.000 | 0.160 | 20 | 46725721 | stop gained | C/A;T | snv | 8.0E-06; 1.6E-05 | 1 | ||
rs763220502 | 1.000 | 0.160 | 20 | 46726884 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 | 1 | |
rs767864243 | 1.000 | 0.160 | 20 | 46725349 | missense variant | C/T | snv | 2.4E-05 | 4.9E-05 | 1 | |
rs771028960 | 1.000 | 0.160 | 20 | 46725728 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 1 | |
rs80358229 | 1.000 | 0.160 | 20 | 46725546 | stop gained | G/A;T | snv | 4.0E-06 | 1 | ||
rs80358230 | 1.000 | 0.160 | 20 | 46725279 | missense variant | C/G | snv | 1 | |||
rs864309478 | 1.000 | 0.160 | 20 | 46725792 | stop gained | C/A | snv | 1 | |||
rs864309479 | 1.000 | 0.160 | 20 | 46726987 | splice donor variant | G/A;T | snv | 4.0E-06 | 1 | ||
rs864309480 | 1.000 | 0.160 | 20 | 46725461 | missense variant | G/T | snv | 1 | |||
rs864309481 | 1.000 | 0.160 | 20 | 46725764 | frameshift variant | TAAC/- | delins | 1 |