Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs772551056 | 0.807 | 0.120 | 1 | 17044824 | missense variant | C/A;T | snv | 4.0E-06 | 9 | ||
rs587782703 | 0.807 | 0.160 | 1 | 17053947 | splice donor variant | C/A;T | snv | 1.2E-05; 4.1E-06 | 8 | ||
rs587782604 | 0.827 | 0.120 | 1 | 17022684 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 7 | ||
rs786201095 | 0.827 | 0.160 | 1 | 17028643 | missense variant | A/C | snv | 1.2E-05 | 7 | ||
rs876658461 | 0.827 | 0.200 | 1 | 17023975 | stop gained | G/A | snv | 7 | |||
rs202101384 | 0.851 | 0.160 | 1 | 17044818 | missense variant | T/A | snv | 4.4E-05 | 1.4E-05 | 6 | |
rs398122805 | 0.851 | 0.120 | 1 | 17028599 | splice donor variant | C/G;T | snv | 1.2E-05 | 6 | ||
rs74315366 | 0.851 | 0.120 | 1 | 17033078 | stop gained | G/A;C | snv | 8.0E-06 | 6 | ||
rs74315369 | 0.851 | 0.080 | 1 | 17044882 | stop gained | G/A;C | snv | 8.0E-06; 4.4E-05 | 6 | ||
rs1060503757 | 0.882 | 0.080 | 1 | 17024024 | frameshift variant | G/- | delins | 5 | |||
rs1131691049 | 0.882 | 0.080 | 1 | 17054019 | start lost | T/A | snv | 5 | |||
rs138996609 | 0.882 | 0.080 | 1 | 17022685 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 5 | |
rs267607032 | 0.882 | 0.080 | 1 | 17028605 | missense variant | C/A | snv | 1.2E-05 | 2.8E-05 | 5 | |
rs397516833 | 0.882 | 0.080 | 1 | 17028737 | splice acceptor variant | C/G | snv | 5 | |||
rs397516836 | 0.882 | 0.080 | 1 | 17024015 | stop gained | C/A;T | snv | 5 | |||
rs587781270 | 0.882 | 0.080 | 1 | 17033058 | splice donor variant | A/T | snv | 5 | |||
rs587782243 | 0.882 | 0.080 | 1 | 17033060 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 5 | |
rs74315367 | 0.882 | 0.080 | 1 | 17024025 | missense variant | G/C | snv | 4.0E-06 | 5 | ||
rs74315368 | 0.882 | 0.080 | 1 | 17022648 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 5 | |
rs74315370 | 0.882 | 0.080 | 1 | 17044825 | stop gained | G/A;C | snv | 1.6E-05 | 5 | ||
rs786201063 | 0.882 | 0.080 | 1 | 17033059 | splice donor variant | C/T | snv | 5 | |||
rs786201161 | 0.882 | 0.080 | 1 | 17024076 | splice acceptor variant | T/C | snv | 5 | |||
rs786202732 | 0.882 | 0.080 | 1 | 17024041 | missense variant | A/G | snv | 5 |