Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs879254933 | 0.882 | 0.160 | 19 | 11113708 | frameshift variant | -/A | delins | 4 | |||
rs879255076 | 0.925 | 0.080 | 19 | 11120176 | frameshift variant | -/A | delins | 4 | |||
rs1057519682 | 0.925 | 0.080 | 19 | 11120458 | frameshift variant | -/A | delins | 2 | |||
rs1057519649 | 1.000 | 0.080 | 19 | 11089422 | upstream gene variant | -/A | delins | 1 | |||
rs1555803425 | 0.925 | 0.080 | 19 | 11105575 | inframe insertion | -/AAATCTGAC | delins | 2 | |||
rs879254892 | 0.925 | 0.080 | 19 | 11113590 | frameshift variant | -/ACAT | delins | 2 | |||
rs879254487 | 0.925 | 0.080 | 19 | 11105255 | frameshift variant | -/ACGATGGGAAGTGCATCTCTCGG | delins | 4 | |||
rs387906302 | 0.925 | 0.080 | 19 | 11129568 | frameshift variant | -/AGAA | delins | 4 | |||
rs879254435 | 0.925 | 0.080 | 19 | 11102667 | frameshift variant | -/AT;T | delins | 2 | |||
rs879254768 | 0.882 | 0.080 | 19 | 11110757 | splice donor variant | -/ATGCGAAG | delins | 4 | |||
rs879254530 | 0.925 | 0.080 | 19 | 11105353 | frameshift variant | -/C | delins | 4 | |||
rs879254994 | 0.925 | 0.080 | 19 | 11116214 | splice region variant | -/C | ins | 2 | |||
rs1057516133 | 1.000 | 0.080 | 19 | 11105275 | frameshift variant | -/C | delins | 1 | |||
rs1057519685 | 1.000 | 0.080 | 19 | 11120514 | frameshift variant | -/C | delins | 1 | |||
rs1057519662 | 1.000 | 0.080 | 19 | 11105570 | frameshift variant | -/CAAGGACAAATCTGACG | delins | 1 | |||
rs1057519657 | 1.000 | 0.080 | 19 | 11105564 | frameshift variant | -/CGACTGC | delins | 1 | |||
rs879254466 | 0.925 | 0.080 | 19 | 11102786 | splice donor variant | -/G | delins | 4 | |||
rs879254629 | 0.925 | 0.080 | 19 | 11105574 | frameshift variant | -/G | delins | 2 | |||
rs1057519666 | 1.000 | 0.080 | 19 | 11107513 | splice donor variant | -/G | delins | 1 | |||
rs879255207 | 0.925 | 0.080 | 19 | 11129540 | frameshift variant | -/G;GG | ins | 2 | |||
rs1555808111 | 0.925 | 0.160 | 19 | 11123284 | frameshift variant | -/GCTG | delins | 3 | |||
rs879254977 | 0.827 | 0.120 | 19 | 11116168 | stop gained | -/GCTGGTGA | delins | 6 | |||
rs1555805127 | 0.925 | 0.120 | 19 | 11113262 | coding sequence variant | -/GGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCC | delins | 3 | |||
rs879254799 | 0.925 | 0.080 | 19 | 11111571 | frameshift variant | -/GGCT | delins | 2 | |||
rs875989916 | 0.882 | 0.080 | 19 | 11111568 | frameshift variant | -/GTGG | delins | 3 |