Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057518962 | X | 32573812 | stop gained | C/A;G;T | snv | 5.5E-06; 5.5E-06 | 6 | ||||
rs1555358382 | 14 | 54844115 | stop gained | G/A | snv | 6 | |||||
rs760361706 | 22 | 46235326 | missense variant | G/C | snv | 4.0E-06 | 4 | ||||
rs1555420508 | 15 | 42387891 | splice region variant | G/A | snv | 3 | |||||
rs757725417 | 2 | 86144399 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 3 | ||||
rs1057518805 | 1 | 202596928 | inframe deletion | ATAGTC/- | delins | 2 | |||||
rs1356874787 | 20 | 3889103 | start lost | G/A | snv | 6.7E-06 | 2 | ||||
rs1373219981 | 1 | 17011736 | start lost | C/A | snv | 1.3E-05 | 2 | ||||
rs1405183655 | 16 | 74719132 | missense variant | C/G;T | snv | 4.0E-06 | 2 | ||||
rs201573646 | 6 | 43640526 | missense variant | G/A | snv | 1.0E-04 | 1.4E-05 | 2 | |||
rs369447743 | 2 | 171434679 | synonymous variant | C/T | snv | 7.4E-04 | 7.7E-05 | 2 | |||
rs746673818 | 17 | 42562625 | start lost | G/A | snv | 2 | |||||
rs764492939 | 17 | 42562414 | start lost | G/A | snv | 1.6E-05 | 2.1E-05 | 2 | |||
rs28933979 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 70 | ||
rs121912438 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 58 | ||
rs121918459 | 0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 47 | |
rs1569548274 | 0.701 | 0.520 | X | 154030553 | splice acceptor variant | TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- | delins | 43 | |||
rs867410737 | 0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 | 45 | ||
rs61755320 | 0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 | 41 | |
rs1805123 | 0.724 | 0.280 | 7 | 150948446 | missense variant | T/A;C;G | snv | 1.3E-05; 0.18; 8.4E-06 | 18 | ||
rs767910122 | 0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 | 17 | ||
rs794728448 | 0.724 | 0.280 | 7 | 150948445 | frameshift variant | CT/G | delins | 17 | |||
rs80356616 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 19 | |||
rs121912443 | 0.732 | 0.160 | 21 | 31663857 | missense variant | A/G | snv | 15 | |||
rs151344517 | 0.742 | 0.320 | 18 | 12337505 | missense variant | C/T | snv | 31 |