Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs146539065 | 0.752 | 0.240 | 4 | 25145092 | synonymous variant | C/T | snv | 2.8E-05 | 4.2E-05 | 34 | |
rs776969714 | 0.752 | 0.240 | 4 | 25145129 | splice acceptor variant | -/C | delins | 4.2E-05 | 34 | ||
rs374052333 | 0.763 | 0.320 | 3 | 132671032 | stop gained | C/G;T | snv | 4.0E-06 | 27 | ||
rs886039799 | 0.763 | 0.320 | 7 | 33273896 | frameshift variant | C/- | del | 17 | |||
rs137852834 | 0.763 | 0.280 | 12 | 88083936 | stop gained | T/A | snv | 5.5E-05 | 9.1E-05 | 13 | |
rs375817528 | 0.776 | 0.160 | 11 | 65206824 | splice region variant | G/A | snv | 1.2E-04 | 1.2E-04 | 25 | |
rs377274761 | 0.776 | 0.240 | 14 | 87968393 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 | 20 | |
rs28940881 | 0.776 | 0.200 | 11 | 89177954 | start lost | A/G | snv | 6.4E-05 | 5.6E-05 | 16 | |
rs758361736 | 0.776 | 0.240 | 15 | 89649836 | missense variant | T/G | snv | 1.3E-05 | 1.4E-05 | 16 | |
rs1554110735 | 0.776 | 0.200 | 6 | 10398693 | frameshift variant | TT/- | delins | 13 | |||
rs150726175 | 0.776 | 0.200 | 1 | 9982630 | missense variant | G/A | snv | 7.0E-04 | 8.5E-04 | 11 | |
rs886039807 | 0.776 | 0.480 | 16 | 75541466 | non coding transcript exon variant | A/G | snv | 4.2E-06 | 11 | ||
rs144078282 | 0.776 | 0.400 | 11 | 72302339 | missense variant | T/A;C | snv | 1.8E-04; 2.0E-04 | 9 | ||
rs200203460 | 0.776 | 0.400 | 11 | 72302312 | stop gained | G/A;C;T | snv | 2.8E-05 | 9 | ||
rs1057518843 | 0.790 | 0.240 | 14 | 87988523 | missense variant | C/T | snv | 19 | |||
rs1064795104 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 17 | |||
rs1561273261 | 0.790 | 0.160 | 5 | 62361307 | missense variant | G/A | snv | 17 | |||
rs61754381 | 0.790 | 0.200 | 11 | 89227816 | splice region variant | T/A;C | snv | 9.5E-04; 8.0E-06 | 8 | ||
rs1554768245 | 0.807 | 0.160 | 6 | 152472395 | frameshift variant | C/- | delins | 16 | |||
rs142285818 | 0.807 | 0.120 | 3 | 129532727 | missense variant | C/G;T | snv | 9.7E-04 | 4.1E-04 | 11 | |
rs886039809 | 0.807 | 0.480 | 14 | 58498824 | frameshift variant | A/- | del | 11 | |||
rs138504221 | 0.807 | 0.280 | 17 | 80212128 | missense variant | A/G | snv | 9.6E-05 | 1.5E-04 | 9 | |
rs864309532 | 0.807 | 0.360 | X | 134393952 | missense variant | G/A | snv | 7 | |||
rs1555377415 | 0.827 | 0.200 | 14 | 77027274 | stop gained | G/C | snv | 18 | |||
rs869312824 | 0.827 | 0.200 | 1 | 1804565 | missense variant | A/G | snv | 14 |