Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs770374710 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 87 | |||
rs1553621496 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 53 | |||
rs1565679039 | 0.701 | 0.400 | 12 | 47983399 | stop gained | T/A | snv | 45 | |||
rs1569548274 | 0.701 | 0.520 | X | 154030553 | splice acceptor variant | TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- | delins | 43 | |||
rs137852981 | 0.752 | 0.480 | 2 | 144399104 | stop gained | G/A | snv | 30 | |||
rs1566911709 | 0.742 | 0.240 | 15 | 48495502 | frameshift variant | T/- | delins | 15 | |||
rs763028380 | 0.851 | 0.320 | 11 | 17453271 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 12 | ||
rs1114167291 | 0.790 | 0.280 | 16 | 89281225 | stop gained | C/A | snv | 10 | |||
rs1057516045 | 0.925 | 0.160 | 1 | 225403404 | stop gained | G/A | snv | 1.6E-05 | 8 | ||
rs1057516040 | 0.851 | 0.200 | 13 | 101292052 | missense variant | T/C | snv | 7 | |||
rs1057516029 | 0.882 | 0.160 | 5 | 14290809 | stop gained | G/T | snv | 6 |