Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1564801473 | 1.000 | 0.040 | 10 | 87864406 | 5 prime UTR variant | -/C | delins | 1 | |||
rs1564801388 | 1.000 | 0.040 | 10 | 87864353 | 5 prime UTR variant | -/G | delins | 1 | |||
rs13294439 | 1.000 | 0.040 | 9 | 23358877 | intron variant | A/C | snv | 0.32 | 2 | ||
rs1564950387 | 1.000 | 0.040 | 11 | 687909 | splice donor variant | A/C | snv | 1 | |||
rs1276388879 | 1.000 | 0.040 | 1 | 151405647 | missense variant | A/C;G | snv | 1 | |||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 3 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 1 | ||
rs2388334 | 0.882 | 0.040 | 6 | 98143746 | intron variant | A/G | snv | 0.39 | 5 | ||
rs10741657 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 3 | ||
rs1131692040 | 0.882 | 0.160 | X | 154399844 | missense variant | A/G | snv | 1 | |||
rs1484207450 | 1.000 | 0.040 | 1 | 151405155 | missense variant | A/G | snv | 7.0E-06 | 1 | ||
rs1557909821 | 1.000 | 0.040 | 1 | 151427999 | missense variant | A/G | snv | 1 | |||
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 1 | |
rs1800692 | 0.925 | 0.120 | 12 | 6333180 | missense variant | A/G | snv | 0.64 | 0.71 | 1 | |
rs1085308043 | 0.763 | 0.200 | 10 | 87925511 | splice acceptor variant | A/G;T | snv | 12 | |||
rs2710102 | 0.790 | 0.120 | 7 | 147877298 | intron variant | A/G;T | snv | 1 | |||
rs7794745 | 0.851 | 0.040 | 7 | 146792514 | intron variant | A/T | snv | 0.49 | 1 | ||
rs1567533189 | 0.925 | 0.160 | 16 | 2086283 | frameshift variant | AAGGACTGCCA/- | del | 2 | |||
rs878853161 | 0.851 | 0.240 | 1 | 42929977 | frameshift variant | AT/- | del | 7 | |||
rs1557916296 | 1.000 | 0.040 | 1 | 151430822 | missense variant | C/A | snv | 1 | |||
rs1561824498 | 1.000 | 0.040 | 5 | 88752044 | splice acceptor variant | C/A | snv | 1 | |||
rs1569513495 | 1.000 | 0.040 | 22 | 50465238 | stop gained | C/A | snv | 1 | |||
rs16835979 | 0.851 | 0.120 | 4 | 4633549 | intron variant | C/A | snv | 0.20 | 1 | ||
rs121909231 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 29 | |||
rs121909219 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 24 |