Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs369160589 | 0.742 | 0.400 | 16 | 5082676 | splice region variant | A/G | snv | 1.0E-04 | 1.3E-04 | 35 | |
rs1009298200 | 0.742 | 0.400 | 16 | 5079077 | missense variant | C/G;T | snv | 7.0E-06 | 34 | ||
rs1555452127 | 0.742 | 0.400 | 16 | 5079078 | missense variant | T/C | snv | 34 | |||
rs1555745467 | 0.752 | 0.240 | 19 | 13262771 | missense variant | C/A | snv | 23 | |||
rs1555968941 | 0.752 | 0.280 | 12 | 2653847 | missense variant | G/A;C | snv | 31 | |||
rs559979281 | 0.742 | 0.440 | 2 | 121530892 | non coding transcript exon variant | C/G;T | snv | 7.7E-06; 2.3E-05; 3.5E-04 | 23 | ||
rs376103091 | 0.851 | 0.200 | 16 | 23544677 | missense variant | G/A | snv | 1.5E-04 | 2.0E-04 | 10 | |
rs137852776 | 0.827 | 0.080 | 6 | 52452799 | missense variant | T/C | snv | 3.5E-03 | 2.4E-03 | 5 | |
rs1553798675 | 0.925 | 0.080 | 3 | 192335441 | missense variant | C/T | snv | 4 | |||
rs4906902 | 0.724 | 0.200 | 15 | 26774621 | intron variant | A/G | snv | 0.15 | 14 | ||
rs112894280 | 1.000 | 0.080 | 5 | 162093956 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs869312825 | 0.827 | 0.120 | 1 | 1804548 | start lost | T/C | snv | 11 | |||
rs869312826 | 0.882 | 0.080 | 1 | 1787378 | missense variant | C/T | snv | 6 | |||
rs7588807 | 0.925 | 0.080 | 2 | 219574380 | intron variant | G/T | snv | 0.48 | 2 | ||
rs727502818 | 0.790 | 0.160 | 11 | 17772053 | missense variant | G/A | snv | 26 | |||
rs2486253 | 0.882 | 0.080 | 1 | 160039629 | 3 prime UTR variant | A/C;T | snv | 3 | |||
rs74315390 | 0.790 | 0.120 | 20 | 63439609 | missense variant | C/G;T | snv | 8 | |||
rs118192250 | 0.851 | 0.120 | 8 | 132175457 | missense variant | C/A | snv | 5 | |||
rs771379232 | 0.790 | 0.120 | 15 | 79845338 | stop gained | G/A | snv | 2.0E-05 | 3.5E-05 | 15 | |
rs587777893 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 67 | |||
rs1065852 | 0.695 | 0.360 | 22 | 42130692 | missense variant | G/A | snv | 0.21 | 0.19 | 19 | |
rs758946412 | 0.790 | 0.240 | X | 100407507 | frameshift variant | G/-;GG | delins | 12 | |||
rs1569315842 | 1.000 | 0.080 | X | 100408107 | frameshift variant | -/G | delins | 1 | |||
rs1553920379 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 27 | |||
rs1555565492 | 0.776 | 0.160 | 17 | 17795417 | frameshift variant | -/G | delins | 18 |