Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs57983345 | 0.851 | 0.160 | 1 | 156115034 | missense variant | A/G | snv | 6 | |||
rs80356734 | 0.851 | 0.160 | 1 | 11022464 | missense variant | A/G | snv | 4 | |||
rs746581714 | 0.882 | 0.120 | 11 | 68917801 | frameshift variant | AAGAA/- | delins | 8.0E-06 | 2.8E-05 | 4 | |
rs1554699491 | 0.763 | 0.280 | 9 | 85596450 | splice acceptor variant | C/A | snv | 23 | |||
rs368775789 | 0.925 | 0.120 | 11 | 68935403 | missense variant | C/A;T | snv | 2.8E-05 | 2 | ||
rs1556620697 | 0.827 | 0.360 | X | 124365758 | splice region variant | C/G | snv | 10 | |||
rs770153273 | 0.882 | 0.200 | 2 | 74371569 | missense variant | C/G | snv | 3.0E-05 | 3 | ||
rs372318863 | 0.882 | 0.160 | 4 | 121804718 | stop gained | C/G;T | snv | 8.0E-06; 2.0E-05 | 3 | ||
rs150516929 | 0.807 | 0.240 | 11 | 111908832 | missense variant | C/T | snv | 9.1E-04 | 8.7E-04 | 8 | |
rs1927907 | 0.790 | 0.320 | 9 | 117710486 | intron variant | C/T | snv | 0.18 | 7 | ||
rs780594709 | 0.882 | 0.120 | 11 | 68933854 | missense variant | C/T | snv | 6.3E-05 | 2.8E-05 | 4 | |
rs72466485 | 0.882 | 0.200 | 2 | 74378068 | missense variant | C/T | snv | 3 | |||
rs181657861 | 1.000 | 0.040 | 11 | 68908232 | missense variant | C/T | snv | 9.5E-04 | 4.6E-04 | 1 | |
rs780631499 | 0.763 | 0.280 | 9 | 85588465 | frameshift variant | G/- | del | 4.0E-06 | 7.0E-06 | 23 | |
rs771237928 | 0.752 | 0.280 | 1 | 119915813 | frameshift variant | G/-;GG | delins | 14 | |||
rs121917836 | 0.882 | 0.040 | 8 | 22162727 | missense variant | G/A | snv | 4 | |||
rs121918130 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 18 | ||
rs75961395 | 0.763 | 0.280 | 7 | 117509123 | missense variant | G/A;T | snv | 4.0E-05 | 10 | ||
rs80356733 | 0.790 | 0.200 | 1 | 11022451 | missense variant | G/T | snv | 7 | |||
rs121917834 | 0.790 | 0.080 | 8 | 22163096 | missense variant | T/A;C | snv | 3.6E-05 | 10 | ||
rs1561500885 | 1.000 | 0.040 | 5 | 70946138 | missense variant | T/C | snv | 2 | |||
rs1553621496 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 53 | |||
rs1569548274 | 0.701 | 0.520 | X | 154030553 | splice acceptor variant | TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- | delins | 43 |