Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs368869806 | 0.614 | 0.480 | 9 | 95485875 | splice acceptor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 97 | |
rs587777893 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 67 | |||
rs114925667 | 0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 | 62 | ||
rs1560755661 | 0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins | 44 | |||
rs267606826 | 0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv | 38 | |||
rs1553770577 | 0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 37 | |||
rs180177035 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 35 | |||
rs387907145 | 0.695 | 0.440 | 16 | 4800548 | stop gained | G/A | snv | 35 | |||
rs786205124 | 0.701 | 0.400 | 16 | 4798593 | frameshift variant | G/-;GGG | delins | 3.5E-05 | 35 | ||
rs387907144 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 34 | |||
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 | ||
rs1562846694 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 32 | |||
rs34757931 | 0.742 | 0.360 | 11 | 119081189 | missense variant | T/G | snv | 1.2E-04 | 5.6E-05 | 26 | |
rs1555954284 | 0.752 | 0.360 | X | 41346607 | missense variant | C/T | snv | 24 | |||
rs142239530 | 0.790 | 0.320 | 11 | 4091328 | missense variant | C/G;T | snv | 4.4E-05 | 24 | ||
rs587784177 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 20 | |||
rs1568269273 | 0.807 | 0.320 | 19 | 13025433 | missense variant | G/A | snv | 18 | |||
rs1555454508 | 0.790 | 0.240 | 15 | 44615487 | stop gained | GTA/ATC | mnv | 18 | |||
rs312262717 | 0.790 | 0.240 | 15 | 44659104 | frameshift variant | A/-;AA | delins | 18 | |||
rs1554603293 | 0.752 | 0.320 | 8 | 60849154 | missense variant | G/A | snv | 17 | |||
rs1553212868 | 0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins | 17 | |||
rs529855742 | 0.827 | 0.320 | 17 | 80214291 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 15 | |
rs1057516030 | 0.807 | 0.280 | 21 | 37480785 | stop gained | -/A | delins | 14 | |||
rs1555038029 | 0.776 | 0.400 | 11 | 118477973 | stop gained | C/A | snv | 12 |