Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555817157 | 0.742 | 0.280 | 20 | 25339320 | frameshift variant | TCTTCCTCAGGCG/- | del | 16 | |||
rs778361520 | 0.925 | 0.120 | 1 | 31728621 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 8 | |
rs387907144 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 34 | |||
rs28940893 | 0.827 | 0.160 | 22 | 50625392 | missense variant | G/A | snv | 3.9E-04 | 3.6E-04 | 3 | |
rs886039799 | 0.763 | 0.320 | 7 | 33273896 | frameshift variant | C/- | del | 17 | |||
rs121908212 | 0.732 | 0.160 | 19 | 13303877 | missense variant | G/A | snv | 5 | |||
rs375817528 | 0.776 | 0.160 | 11 | 65206824 | splice region variant | G/A | snv | 1.2E-04 | 1.2E-04 | 25 | |
rs1555975523 | 0.851 | 0.200 | X | 41534892 | splice donor variant | C/AT | delins | 5 | |||
rs398122845 | 1.000 | 0.080 | X | 41524036 | splice acceptor variant | T/A;C | snv | 2 | |||
rs137852834 | 0.763 | 0.280 | 12 | 88083936 | stop gained | T/A | snv | 5.5E-05 | 9.1E-05 | 12 | |
rs1057518822 | 1.000 | 0.080 | 12 | 88102888 | stop gained | G/A | snv | 4 | |||
rs757788894 | 0.882 | 0.120 | 16 | 1449081 | missense variant | C/T | snv | 4.0E-06 | 6 | ||
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 | ||
rs1558811557 | 0.851 | 0.120 | 2 | 98377710 | frameshift variant | -/TCAGTGCTGCAGCCGGGGATCG | delins | 5 | |||
rs775796581 | 0.851 | 0.120 | 8 | 86666951 | frameshift variant | AGTCTGGG/- | delins | 5.2E-05 | 7.0E-05 | 5 | |
rs765919785 | 0.882 | 0.080 | 21 | 45477409 | splice acceptor variant | A/G | snv | 8.2E-06 | 2.8E-05 | 4 | |
rs1553281318 | 0.882 | 0.120 | 1 | 226986536 | frameshift variant | -/A | delins | 7 | |||
rs1561273261 | 0.790 | 0.160 | 5 | 62361307 | missense variant | G/A | snv | 17 | |||
rs121907922 | 0.742 | 0.320 | 11 | 31789935 | stop gained | T/A | snv | 12 | |||
rs1064795104 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 17 | |||
rs61816761 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 28 | ||
rs267606826 | 0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv | 38 | |||
rs137852212 | 0.925 | 0.120 | X | 132084546 | missense variant | G/A;C | snv | 1 | |||
rs1085307993 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 53 |