Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1559931177 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 34 | |||
rs34757931 | 0.742 | 0.360 | 11 | 119081189 | missense variant | T/G | snv | 1.2E-04 | 5.6E-05 | 26 | |
rs80338903 | 0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 | 25 | |
rs1562127631 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 24 | |||
rs771379232 | 0.790 | 0.120 | 15 | 79845338 | stop gained | G/A | snv | 2.0E-05 | 3.5E-05 | 15 | |
rs753635972 | 0.790 | 0.120 | 15 | 79845388 | missense variant | C/T | snv | 3.2E-05 | 2.1E-05 | 15 | |
rs28936375 | 0.752 | 0.320 | 1 | 53197092 | missense variant | C/A | snv | 1.7E-04 | 2.2E-04 | 13 | |
rs869312697 | 0.882 | 0.400 | 6 | 157207241 | stop gained | C/T | snv | 8 | |||
rs63750756 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 5 | ||
rs1555631390 | 0.851 | 0.160 | 18 | 31595128 | inframe insertion | -/AGTCTG | delins | 4 | |||
rs28933979 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 4 | ||
rs74315431 | 0.732 | 0.080 | 20 | 58418318 | missense variant | C/T | snv | 4.0E-06 | 4 | ||
rs121909717 | 0.925 | 0.120 | 17 | 44908075 | missense variant | G/A;C;T | snv | 1.2E-04 | 1 | ||
rs104893856 | 0.827 | 0.080 | 4 | 41746162 | missense variant | C/T | snv | 1 |