Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs25531 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 72 | ||
rs104893877 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 59 | |||
rs875989800 | 0.732 | 0.480 | 22 | 23833670 | inframe deletion | AGA/- | delins | 33 | |||
rs1553920379 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 27 | |||
rs5742905 | 0.701 | 0.360 | 21 | 43063074 | missense variant | A/G | snv | 22 | |||
rs104893878 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 21 | |||
rs1566785444 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 20 | |||
rs4291 | 0.724 | 0.400 | 17 | 63476833 | upstream gene variant | T/A;C | snv | 20 | |||
rs10938397 | 0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 | 19 | ||
rs387906846 | 0.807 | 0.280 | 1 | 26773716 | stop gained | C/G;T | snv | 19 | |||
rs63750215 | 0.701 | 0.240 | 1 | 226885603 | missense variant | A/T | snv | 19 | |||
rs80356537 | 0.752 | 0.320 | 19 | 41970405 | missense variant | C/A;G;T | snv | 17 | |||
rs63751438 | 0.776 | 0.120 | 17 | 46010388 | missense variant | C/T | snv | 16 | |||
rs121913470 | 0.776 | 0.200 | 17 | 39723967 | missense variant | T/C;G | snv | 13 | |||
rs1555582065 | 0.827 | 0.160 | 17 | 44212851 | missense variant | C/T | snv | 13 | |||
rs1800544 | 0.790 | 0.160 | 10 | 111076745 | upstream gene variant | G/C | snv | 0.59 | 12 | ||
rs2283265 | 0.776 | 0.160 | 11 | 113414814 | intron variant | C/A | snv | 0.16 | 12 | ||
rs587776625 | 0.851 | 0.080 | 16 | 57654103 | frameshift variant | CAGGACC/- | delins | 12 | |||
rs1799732 | 0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins | 11 | |||
rs27072 | 0.807 | 0.120 | 5 | 1394407 | 3 prime UTR variant | C/A;T | snv | 11 | |||
rs1057518644 | 0.925 | 0.120 | 8 | 43192413 | stop gained | C/T | snv | 10 | |||
rs1481318368 | 0.827 | 0.120 | 11 | 2169802 | missense variant | C/T | snv | 10 | |||
rs3746544 | 0.790 | 0.120 | 20 | 10306436 | 3 prime UTR variant | G/T | snv | 0.68 | 10 |