Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1559193213 | 0.807 | 0.160 | 2 | 166036149 | frameshift variant | -/G | delins | 11 | |||
rs1558003446 | 1.000 | 0.080 | 1 | 160123327 | frameshift variant | -/TC | delins | 2 | |||
rs121918364 | 0.851 | 0.200 | X | 100662227 | missense variant | A/C | snv | 3.3E-05 | 2.9E-05 | 5 | |
rs1131692230 | 0.807 | 0.160 | X | 19353124 | missense variant | A/G | snv | 9 | |||
rs1057518801 | 0.851 | 0.080 | 2 | 165130238 | missense variant | A/G | snv | 5 | |||
rs1135401758 | 0.882 | 0.080 | 6 | 3227511 | missense variant | C/G | snv | 4 | |||
rs1064796460 | 0.790 | 0.400 | 12 | 49185197 | missense variant | C/G;T | snv | 8 | |||
rs1555954284 | 0.752 | 0.360 | X | 41346607 | missense variant | C/T | snv | 24 | |||
rs1567782714 | 0.882 | 0.120 | 16 | 57655528 | stop gained | C/T | snv | 5 | |||
rs398122369 | 0.882 | 0.160 | 6 | 3224828 | missense variant | C/T | snv | 3 | |||
rs1421508093 | 1.000 | 0.080 | 15 | 79025460 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs758216329 | 1.000 | 0.080 | 1 | 155958388 | missense variant | C/T | snv | 1.2E-05 | 1 | ||
rs587776625 | 0.851 | 0.080 | 16 | 57654103 | frameshift variant | CAGGACC/- | delins | 12 | |||
rs386794162 | 0.925 | 0.160 | 16 | 89935711 | missense variant | CG/GA | mnv | 2 | |||
rs398124401 | 0.695 | 0.480 | 4 | 55346393 | stop gained | G/A | snv | 1.2E-04 | 2.8E-05 | 26 | |
rs1064796765 | 0.763 | 0.240 | 14 | 102002950 | missense variant | G/A | snv | 19 | |||
rs587776935 | 0.827 | 0.120 | 1 | 243505296 | missense variant | G/A | snv | 7 | |||
rs587776934 | 0.851 | 0.320 | 19 | 18162974 | missense variant | G/A | snv | 5 | |||
rs879255597 | 0.882 | 0.080 | 18 | 58390667 | missense variant | G/A | snv | 3 | |||
rs1057519925 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 25 | |||
rs1057518849 | 0.925 | 0.080 | 9 | 137800985 | splice donor variant | G/A;C | snv | 4.0E-06 | 4 | ||
rs1064793286 | 1.000 | 0.080 | 12 | 49185198 | missense variant | G/A;C | snv | 1 | |||
rs587777893 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 67 | |||
rs386834034 | 0.790 | 0.240 | 1 | 46194853 | stop gained | G/A;T | snv | 2.0E-05 | 9 | ||
rs1555155556 | 0.851 | 0.120 | 12 | 12435627 | splice acceptor variant | G/T | snv | 6 |