Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057518821 | 1.000 | 1 | 42930671 | frameshift variant | -/C | delins | 5 | ||||
rs1057518965 | 0.882 | 0.320 | 11 | 108244812 | frameshift variant | A/- | delins | 5 | |||
rs1563945076 | 0.925 | 0.160 | 9 | 32974556 | frameshift variant | A/- | del | 4 | |||
rs63750231 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 23 | |||
rs267606695 | 1.000 | 0.160 | 8 | 60266044 | missense variant | A/C;G | snv | 5 | |||
rs587777004 | 1.000 | 0.080 | 1 | 244842055 | missense variant | A/C;G | snv | 4.0E-06 | 3 | ||
rs143319805 | 0.807 | 0.320 | 3 | 193643378 | missense variant | A/G | snv | 6.2E-04 | 5.7E-04 | 12 | |
rs754081544 | 0.925 | 0.080 | 10 | 100988947 | missense variant | A/G | snv | 1.6E-05 | 7.0E-06 | 5 | |
rs1208917022 | 1.000 | 0.040 | 12 | 6936663 | missense variant | A/G | snv | 3 | |||
rs1424215334 | 1.000 | 0.120 | 2 | 44280805 | missense variant | A/G | snv | 2.1E-05 | 3 | ||
rs148156462 | 0.925 | 0.080 | 4 | 83264287 | missense variant | A/G | snv | 4.2E-03 | 1.6E-03 | 3 | |
rs80358243 | 0.925 | 0.200 | 22 | 50083183 | intron variant | A/G;T | snv | 8.0E-06 | 4 | ||
rs863224229 | 0.925 | 0.200 | 9 | 133356441 | start lost | ACCGCCGCCATCGCACCCGGCCCC/- | delins | 4 | |||
rs782316919 | 0.827 | 0.160 | 9 | 133351970 | frameshift variant | AG/- | delins | 8.4E-05 | 9 | ||
rs1554768245 | 0.807 | 0.160 | 6 | 152472395 | frameshift variant | C/- | delins | 16 | |||
rs1057518796 | 1.000 | 6 | 33443751 | frameshift variant | C/- | delins | 3 | ||||
rs1555745467 | 0.752 | 0.240 | 19 | 13262771 | missense variant | C/A | snv | 23 | |||
rs531630376 | 1.000 | 0.080 | 5 | 141955844 | stop gained | C/A | snv | 4.0E-06 | 4 | ||
rs80356713 | 0.925 | 0.120 | X | 75070499 | missense variant | C/A;G | snv | 3 | |||
rs1057519389 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 46 | |||
rs1043679457 | 0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv | 33 | |||
rs28933383 | 0.851 | 0.120 | 12 | 4912055 | missense variant | C/A;G;T | snv | 8 | |||
rs267606670 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 19 | |||
rs181109321 | 0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 | 17 | ||
rs11538758 | 0.882 | 0.160 | 20 | 4699534 | missense variant | C/A;T | snv | 8 |