Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1294950721 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 27 | ||
rs28939668 | 0.807 | 0.200 | 20 | 10652533 | missense variant | C/T | snv | 6 | |||
rs121918351 | 0.882 | 0.240 | 20 | 10658611 | missense variant | C/T | snv | 3 | |||
rs1568793309 | 0.882 | 0.120 | 20 | 10643851 | frameshift variant | G/- | del | 3 | |||
rs2273061 | 1.000 | 0.080 | 20 | 10658895 | intron variant | G/A | snv | 0.46 | 3 | ||
rs727504412 | 0.925 | 0.120 | 20 | 10645245 | frameshift variant | ACTG/- | delins | 3 | |||
rs145895196 | 0.925 | 0.120 | 20 | 10641566 | missense variant | C/A;T | snv | 1.6E-05; 1.9E-03 | 2 | ||
rs3790160 | 20 | 10659340 | intron variant | T/C | snv | 0.54 | 2 | ||||
rs769531968 | 0.925 | 0.120 | 20 | 10643807 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs1032920906 | 1.000 | 0.120 | 20 | 10672702 | missense variant | G/C | snv | 1 | |||
rs1051419 | 1.000 | 0.120 | 20 | 10639738 | stop gained | A/C;G | snv | 0.65 | 1 | ||
rs1060501347 | 1.000 | 0.120 | 20 | 10649102 | frameshift variant | -/A | delins | 1 | |||
rs1060501349 | 1.000 | 0.120 | 20 | 10641536 | frameshift variant | T/- | delins | 1 | |||
rs1060501350 | 1.000 | 0.120 | 20 | 10641688 | stop gained | C/T | snv | 1 | |||
rs1060501351 | 1.000 | 0.120 | 20 | 10658619 | stop gained | A/T | snv | 1 | |||
rs1060501352 | 1.000 | 0.120 | 20 | 10641532 | stop gained | G/T | snv | 1 | |||
rs1131695 | 1.000 | 0.080 | 20 | 10652589 | stop gained | G/A;C;T | snv | 0.46 | 1 | ||
rs121918350 | 1.000 | 0.120 | 20 | 10658612 | missense variant | G/A | snv | 1 | |||
rs121918352 | 1.000 | 0.120 | 20 | 10672978 | missense variant | A/G | snv | 1 | |||
rs121918353 | 1.000 | 0.200 | 20 | 10656452 | missense variant | C/T | snv | 1 | |||
rs12625256 | 20 | 10657738 | intron variant | A/T | snv | 0.37 | 1 | ||||
rs1282498658 | 1.000 | 0.120 | 20 | 10672721 | missense variant | G/A | snv | 1 | |||
rs1437309558 | 1.000 | 0.120 | 20 | 10642587 | stop gained | G/A | snv | 4.0E-06 | 1 | ||
rs1555827650 | 1.000 | 0.120 | 20 | 10640813 | frameshift variant | CT/- | delins | 1 | |||
rs1555827653 | 1.000 | 0.120 | 20 | 10640815 | frameshift variant | ACTT/- | delins | 1 |