Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1562846694 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 32 | |||
rs1568269273 | 0.807 | 0.320 | 19 | 13025433 | missense variant | G/A | snv | 18 | |||
rs180177035 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 35 | |||
rs185476065 | 0.882 | 0.160 | 3 | 49100222 | missense variant | G/A;C;T | snv | 8.0E-05; 4.0E-06 | 11 | ||
rs200473652 | 0.807 | 0.200 | 2 | 209819105 | missense variant | G/C | snv | 1.4E-03 | 1.6E-03 | 7 | |
rs267606826 | 0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv | 38 | |||
rs312262717 | 0.790 | 0.240 | 15 | 44659104 | frameshift variant | A/-;AA | delins | 18 | |||
rs34757931 | 0.742 | 0.360 | 11 | 119081189 | missense variant | T/G | snv | 1.2E-04 | 5.6E-05 | 26 | |
rs368869806 | 0.614 | 0.480 | 9 | 95485875 | splice acceptor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 97 | |
rs387907144 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 34 | |||
rs387907145 | 0.695 | 0.440 | 16 | 4800548 | stop gained | G/A | snv | 36 | |||
rs387907329 | 0.827 | 0.200 | X | 49075573 | stop gained | G/A;T | snv | 5.5E-06 | 10 | ||
rs529855742 | 0.827 | 0.320 | 17 | 80214291 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 15 | |
rs587777893 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 67 | |||
rs587784177 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 20 | |||
rs61751035 | 0.882 | 0.160 | 1 | 213242186 | missense variant | G/A | snv | 2.4E-05 | 1.4E-05 | 6 | |
rs672601368 | 0.827 | 0.160 | 2 | 240785062 | missense variant | C/G;T | snv | 10 | |||
rs730882249 | 0.882 | 0.120 | 7 | 100105981 | stop gained | C/T | snv | 4.0E-06 | 6 | ||
rs746800707 | 0.851 | 0.160 | 20 | 36240388 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 | 8 | ||
rs776291104 | 0.827 | 0.240 | 19 | 49829816 | missense variant | C/T | snv | 8.7E-06 | 12 | ||
rs776969714 | 0.752 | 0.240 | 4 | 25145129 | splice acceptor variant | -/C | delins | 4.2E-05 | 34 | ||
rs786205124 | 0.701 | 0.400 | 16 | 4798593 | frameshift variant | G/-;GGG | delins | 3.5E-05 | 35 | ||
rs797045905 | 0.851 | 0.360 | 2 | 135164629 | stop gained | T/G | snv | 5 | |||
rs886041094 | 0.807 | 0.200 | 2 | 209941379 | missense variant | G/A | snv | 1.9E-05 | 2.1E-05 | 7 |