Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs945032 | 0.882 | 0.040 | 14 | 96204324 | upstream gene variant | T/C | snv | 0.78 | 5 | ||
rs1133503 | 1.000 | 0.040 | 6 | 95606712 | 3 prime UTR variant | C/G;T | snv | 4 | |||
rs669 | 0.851 | 0.080 | 12 | 9079672 | missense variant | T/C | snv | 0.31 | 0.33 | 7 | |
rs104893877 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 59 | |||
rs267606959 | 0.732 | 0.200 | 15 | 89318986 | missense variant | G/A | snv | 2.0E-05 | 19 | ||
rs1555462347 | 0.716 | 0.520 | 16 | 8901028 | frameshift variant | CT/- | delins | 34 | |||
rs4916723 | 0.925 | 0.040 | 5 | 88558577 | intron variant | A/C;G;T | snv | 4 | |||
rs2023239 | 0.724 | 0.160 | 6 | 88150763 | intron variant | T/C | snv | 0.21 | 20 | ||
rs53576 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 42 | |||
rs2254298 | 0.701 | 0.200 | 3 | 8760542 | intron variant | G/A | snv | 0.16 | 23 | ||
rs13438494 | 1.000 | 0.040 | 7 | 82759398 | intron variant | T/G | snv | 0.61 | 6 | ||
rs6296 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 23 | |
rs1126647 | 0.827 | 0.160 | 4 | 73743328 | 3 prime UTR variant | A/T | snv | 0.31 | 8 | ||
rs4570625 | 0.724 | 0.200 | 12 | 71938143 | upstream gene variant | G/T | snv | 0.27 | 25 | ||
rs121917893 | 0.807 | 0.160 | X | 71167508 | missense variant | C/T | snv | 10 | |||
rs80338758 | 0.790 | 0.400 | X | 71127367 | missense variant | C/A;T | snv | 12 | |||
rs754747375 | 10 | 69369252 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 1 | |||
rs1466835565 | 10 | 69368539 | missense variant | A/G | snv | 1 | |||||
rs121964849 | 1.000 | 0.120 | 12 | 6869741 | missense variant | A/G | snv | 2 | |||
rs6295 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 40 | ||
rs1799920 | 5 | 63961656 | missense variant | C/G;T | snv | 3.2E-04 | 2 | ||||
rs1799921 | 5 | 63961638 | missense variant | T/C | snv | 9.4E-03 | 9.3E-03 | 2 | |||
rs1800044 | 0.827 | 0.200 | 5 | 63961061 | missense variant | C/A | snv | 3.7E-03 | 3.8E-03 | 8 | |
rs120074125 | 0.882 | 0.160 | 11 | 6393301 | missense variant | T/G | snv | 4.0E-06 | 7 | ||
rs1044396 | 0.742 | 0.240 | 20 | 63349782 | missense variant | G/A;C | snv | 0.47; 6.1E-05 | 17 |