Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057518834 | X | 32849737 | frameshift variant | C/- | delins | 9 | |||||
rs201217593 | 0.790 | 0.200 | X | 31177947 | stop gained | C/T | snv | 2.2E-05 | 2.9E-05 | 8 | |
rs886039785 | 0.925 | 0.120 | X | 31496876 | stop gained | C/T | snv | 7 | |||
rs1057518962 | X | 32573812 | stop gained | C/A;G;T | snv | 5.5E-06; 5.5E-06 | 6 | ||||
rs769985775 | 0.851 | 0.160 | X | 32448630 | synonymous variant | T/C | snv | 5.7E-06 | 9.5E-06 | 6 | |
rs1800264 | 0.827 | 0.120 | X | 32699141 | missense variant | A/C;G | snv | 5.5E-06; 8.3E-03 | 5 | ||
rs1557315928 | X | 32380517 | stop gained | C/T | snv | 4 | |||||
rs104894787 | 0.882 | 0.160 | X | 31178784 | stop gained | G/A | snv | 3 | |||
rs128627256 | 0.882 | 0.160 | X | 31478330 | stop gained | G/A | snv | 3 | |||
rs1489694587 | 0.882 | 0.120 | X | 31172385 | missense variant | A/C | snv | 3 | |||
rs373286166 | 0.882 | 0.160 | X | 32573529 | splice donor variant | C/T | snv | 1.6E-05 | 2.8E-05 | 3 | |
rs398122853 | 0.882 | 0.160 | X | 33211304 | stop gained | C/T | snv | 3 | |||
rs398123832 | 0.882 | 0.160 | X | 31178721 | stop gained | G/A | snv | 3 | |||
rs398123909 | 0.882 | 0.160 | X | 32472310 | splice acceptor variant | C/A;T | snv | 3 | |||
rs398123929 | 0.882 | 0.160 | X | 32468509 | stop gained | G/A | snv | 3 | |||
rs398123935 | 0.882 | 0.160 | X | 32463576 | stop gained | G/A | snv | 3 | |||
rs794726993 | 0.882 | 0.160 | X | 32645020 | stop gained | G/A;C | snv | 3 | |||
rs886042604 | 1.000 | 0.120 | X | 33020138 | splice donor variant | C/G;T | snv | 3 | |||
rs886043676 | X | 31178766 | frameshift variant | G/- | del | 3 | |||||
rs1048379601 | X | 31773986 | missense variant | T/C | snv | 1.9E-05 | 2 | ||||
rs104894790 | 0.925 | 0.160 | X | 31178751 | stop gained | G/A | snv | 2 | |||
rs128626232 | 0.925 | 0.160 | X | 32545310 | stop gained | G/A;C | snv | 1.1E-05 | 2 | ||
rs128626235 | 0.925 | 0.160 | X | 32816565 | stop gained | G/A;T | snv | 5.5E-06 | 2 | ||
rs128626241 | 0.925 | 0.160 | X | 32595870 | stop gained | G/A | snv | 2 | |||
rs128626245 | 0.925 | 0.160 | X | 32468539 | stop gained | G/A | snv | 2 |