Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs878854575 | 0.882 | 0.080 | 1 | 17033075 | stop gained | T/A | snv | 4 | |||
rs878854574 | 0.925 | 0.080 | 1 | 17033147 | splice acceptor variant | T/G | snv | 3 | |||
rs878854572 | 0.925 | 0.080 | 1 | 17044835 | frameshift variant | A/- | delins | 3 | |||
rs876658713 | 0.925 | 0.080 | 1 | 17033125 | missense variant | T/G | snv | 4.0E-06 | 1.4E-05 | 3 | |
rs876658461 | 0.827 | 0.200 | 1 | 17023975 | stop gained | G/A | snv | 7 | |||
rs794728947 | 0.925 | 0.080 | 1 | 17033135 | frameshift variant | -/G | delins | 4.0E-06 | 4 | ||
rs786203506 | 0.925 | 0.080 | 1 | 17028649 | stop gained | G/A;C;T | snv | 4 | |||
rs786203251 | 0.882 | 0.080 | 1 | 17022649 | missense variant | G/A;T | snv | 5 | |||
rs786202732 | 0.882 | 0.080 | 1 | 17024041 | missense variant | A/G | snv | 5 | |||
rs786202100 | 0.925 | 0.080 | 1 | 17044791 | frameshift variant | GAGGT/- | delins | 4 | |||
rs786201316 | 0.925 | 0.080 | 1 | 17028712 | frameshift variant | T/CC | delins | 4 | |||
rs786201161 | 0.882 | 0.080 | 1 | 17024076 | splice acceptor variant | T/C | snv | 5 | |||
rs786201095 | 0.827 | 0.160 | 1 | 17028643 | missense variant | A/C | snv | 1.2E-05 | 7 | ||
rs786201063 | 0.882 | 0.080 | 1 | 17033059 | splice donor variant | C/T | snv | 5 | |||
rs772551056 | 0.807 | 0.120 | 1 | 17044824 | missense variant | C/A;T | snv | 4.0E-06 | 9 | ||
rs762812025 | 0.882 | 0.080 | 1 | 17022689 | frameshift variant | CT/- | delins | 4.0E-06 | 4 | ||
rs751000085 | 0.882 | 0.080 | 1 | 17028680 | stop gained | G/A;C | snv | 8.0E-06 | 4 | ||
rs74315370 | 0.882 | 0.080 | 1 | 17044825 | stop gained | G/A;C | snv | 1.6E-05 | 5 | ||
rs74315369 | 0.851 | 0.080 | 1 | 17044882 | stop gained | G/A;C | snv | 8.0E-06; 4.4E-05 | 6 | ||
rs74315368 | 0.882 | 0.080 | 1 | 17022648 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 5 | |
rs74315367 | 0.882 | 0.080 | 1 | 17024025 | missense variant | G/C | snv | 4.0E-06 | 5 | ||
rs74315366 | 0.851 | 0.120 | 1 | 17033078 | stop gained | G/A;C | snv | 8.0E-06 | 6 | ||
rs587782703 | 0.807 | 0.160 | 1 | 17053947 | splice donor variant | C/A;T | snv | 1.2E-05; 4.1E-06 | 8 | ||
rs587782617 | 0.925 | 0.080 | 1 | 17023999 | frameshift variant | ATTTGTCTCC/- | del | 4 | |||
rs587782604 | 0.827 | 0.120 | 1 | 17022684 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 7 |