Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1163944538 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 73 | ||
rs1352010373 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 73 | |||
rs199469465 | 0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv | 49 | |||
rs1569548274 | 0.701 | 0.520 | X | 154030553 | splice acceptor variant | TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- | delins | 43 | |||
rs151344517 | 0.742 | 0.320 | 18 | 12337505 | missense variant | C/T | snv | 31 | |||
rs759191907 | 0.776 | 0.360 | 9 | 127825225 | splice region variant | A/G | snv | 8.0E-06 | 25 | ||
rs61816761 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 24 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 22 | ||
rs61752717 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 19 | ||
rs148636776 | 0.790 | 0.280 | 12 | 111447491 | missense variant | G/A | snv | 1.5E-04 | 2.4E-04 | 17 | |
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 9 | |
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 8 | |
rs776974834 | 0.882 | 0.160 | 20 | 45420215 | frameshift variant | AAAG/- | delins | 1.2E-05 | 7.0E-06 | 6 | |
rs1555876283 | 0.925 | 0.080 | 20 | 45416526 | frameshift variant | A/- | del | 5 | |||
rs1553933367 | 1.000 | 0.080 | 4 | 80018939 | frameshift variant | -/T | delins | 2 | |||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 2 | |||
rs28940580 | 0.742 | 0.560 | 16 | 3243447 | missense variant | C/A;G;T | snv | 1.0E-04; 8.0E-06 | 2 | ||
rs147080557 | 0.882 | 0.120 | 19 | 53810777 | missense variant | G/A;C | snv | 3.6E-05; 4.0E-06 | 1 | ||
rs4149584 | 0.683 | 0.440 | 12 | 6333477 | missense variant | C/G;T | snv | 4.0E-06; 1.3E-02 | 1 |