Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519270 | 0.925 | 0.040 | 15 | 82680174 | splice donor variant | C/G | snv | 2 | |||
rs201497300 | 0.925 | 0.160 | 13 | 51946337 | missense variant | C/T | snv | 4.6E-05 | 2.8E-05 | 2 | |
rs587776508 | 0.882 | 0.040 | 12 | 123253922 | frameshift variant | T/- | del | 4.0E-06 | 4 | ||
rs121909323 | 0.790 | 0.160 | 19 | 13277122 | stop gained | G/A | snv | 8 | |||
rs786200962 | 0.827 | 0.120 | 19 | 13298768 | frameshift variant | A/- | del | 7 | |||
rs1064794262 | 0.925 | 0.040 | 19 | 13303831 | frameshift variant | CT/- | del | 3 | |||
rs1485894376 | 1.000 | 0.040 | 3 | 50375876 | missense variant | C/G;T | snv | 1 | |||
rs267608501 | 0.882 | 0.160 | X | 18587986 | missense variant | C/T | snv | 3 | |||
rs1057518759 | 1.000 | 0.040 | X | 18604394 | frameshift variant | -/GC | delins | 2 | |||
rs786204967 | 1.000 | 0.040 | X | 18604169 | frameshift variant | AG/- | delins | 2 | |||
rs1057519542 | 1.000 | 0.040 | X | 18604372 | frameshift variant | -/GACC | delins | 1 | |||
rs1569219844 | 1.000 | 0.040 | X | 18604845 | frameshift variant | AG/- | del | 1 | |||
rs869312702 | 0.827 | 0.160 | 9 | 128203609 | missense variant | G/A | snv | 10 | |||
rs1057519269 | 0.925 | 0.040 | 15 | 82679729 | splice region variant | C/T | snv | 2 | |||
rs886039903 | 0.807 | 0.200 | 3 | 192335434 | missense variant | C/T | snv | 4 | |||
rs1057518816 | 1.000 | 0.040 | 11 | 72195389 | missense variant | G/A | snv | 1 | |||
rs587777308 | 0.763 | 0.040 | 5 | 161873196 | missense variant | G/A | snv | 8 | |||
rs879253748 | 0.882 | 0.040 | 5 | 161897251 | frameshift variant | C/- | del | 5 | |||
rs1060499553 | 0.827 | 0.040 | 5 | 161890983 | missense variant | G/A | snv | 2 | |||
rs1057519549 | 0.925 | 0.040 | 15 | 26567655 | missense variant | G/A | snv | 2 | |||
rs1057519550 | 0.925 | 0.040 | 15 | 26621403 | missense variant | T/G | snv | 2 | |||
rs397514737 | 0.882 | 0.080 | 5 | 162149153 | missense variant | G/A | snv | 3 | |||
rs121909674 | 0.790 | 0.080 | 5 | 162153132 | stop gained | C/T | snv | 1 | |||
rs587777057 | 0.827 | 0.040 | 16 | 56336744 | missense variant | G/A | snv | 3 | |||
rs886041715 | 0.827 | 0.040 | 16 | 56192353 | missense variant | G/A;C;T | snv | 4 |