Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs752298579 | 0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 | 48 | |
rs1057519389 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 46 | |||
rs61755320 | 0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 | 36 | |
rs113994095 | 0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 | 21 | |
rs1135401778 | 0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del | 20 | |||
rs727502818 | 0.790 | 0.160 | 11 | 17772053 | missense variant | G/A | snv | 20 | |||
rs267606670 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 17 | |||
rs606231435 | 0.827 | 0.240 | 19 | 41970539 | missense variant | C/T | snv | 17 | |||
rs181109321 | 0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 | 15 | ||
rs1057519429 | 0.807 | 0.240 | 19 | 13235666 | missense variant | C/G;T | snv | 14 | |||
rs199476133 | 0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv | 14 | |||
rs672601370 | 0.790 | 0.160 | 2 | 240775863 | missense variant | G/A | snv | 13 | |||
rs138249161 | 0.827 | 0.240 | 12 | 106432421 | missense variant | T/A | snv | 2.7E-04 | 3.0E-04 | 8 | |
rs1057520918 | 0.790 | 0.160 | 19 | 13262780 | missense variant | C/T | snv | 7 | |||
rs1553281318 | 0.882 | 0.120 | 1 | 226986536 | frameshift variant | -/A | delins | 7 | |||
rs672601362 | 0.851 | 0.080 | 2 | 240789246 | missense variant | G/A | snv | 7 | |||
rs730882209 | 0.925 | 0.080 | 9 | 132326375 | frameshift variant | -/C | delins | 6 | |||
rs730882198 | 0.851 | 0.200 | 13 | 36314259 | frameshift variant | -/T | delins | 1.2E-05 | 6 | ||
rs121908212 | 0.732 | 0.160 | 19 | 13303877 | missense variant | G/A | snv | 5 | |||
rs113994097 | 0.724 | 0.400 | 15 | 89323426 | missense variant | C/G | snv | 9.7E-04 | 7.9E-04 | 5 | |
rs1553878395 | 0.925 | 0.080 | 4 | 25127263 | splice acceptor variant | AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/- | delins | 5 | |||
rs121918358 | 0.882 | 0.160 | 16 | 89510539 | stop gained | T/A | snv | 4.2E-04 | 1.8E-04 | 5 | |
rs28933385 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 4 | ||
rs730882234 | 0.925 | 17 | 59697725 | missense variant | T/G | snv | 4 | ||||
rs121908217 | 0.851 | 0.120 | 19 | 13308452 | missense variant | C/T | snv | 4.0E-06 | 3 |