Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs555607708 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 33 | |
rs11571833 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 21 | |
rs10069690 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 19 | ||
rs1011970 | 0.677 | 0.320 | 9 | 22062135 | intron variant | G/T | snv | 0.23 | 18 | ||
rs4808075 | 0.701 | 0.280 | 19 | 17279482 | intron variant | T/C | snv | 0.26 | 18 | ||
rs17879961 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 15 | ||
rs41293497 | 0.724 | 0.440 | 13 | 32340037 | stop gained | C/A;G;T | snv | 4.0E-06; 2.0E-05 | 14 | ||
rs28897672 | 0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 | 10 | ||
rs180177133 | 0.807 | 0.240 | 16 | 23614089 | frameshift variant | T/- | delins | 1.2E-05 | 1.4E-05 | 9 | |
rs80356898 | 0.752 | 0.200 | 17 | 43093844 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 9 | ||
rs137853007 | 0.790 | 0.240 | 22 | 28725254 | missense variant | G/A;T | snv | 5.2E-05 | 8 | ||
rs180177132 | 0.790 | 0.280 | 16 | 23621362 | stop gained | C/T | snv | 6.0E-05 | 2.1E-05 | 8 | |
rs17817449 | 0.716 | 0.560 | 16 | 53779455 | intron variant | T/A;G | snv | 7 | |||
rs587780174 | 0.827 | 0.360 | 22 | 28695239 | frameshift variant | A/- | delins | 4.4E-05 | 5.6E-05 | 7 | |
rs2046210 | 0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 | 6 | ||
rs4245739 | 0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 | 6 | ||
rs587782652 | 0.851 | 0.320 | 11 | 108335105 | missense variant | T/C | snv | 3.2E-05 | 4.2E-05 | 5 | |
rs80357474 | 0.827 | 0.200 | 17 | 43049188 | missense variant | A/C;G;T | snv | 8.0E-06 | 5 | ||
rs80359770 | 0.851 | 0.200 | 13 | 32332429 | frameshift variant | A/-;AA | delins | 5 | |||
rs8170 | 0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 | 5 | |
rs864622149 | 0.851 | 0.160 | 22 | 28710005 | splice donor variant | C/A;G;T | snv | 5 | |||
rs2981575 | 0.882 | 0.120 | 10 | 121586602 | intron variant | G/A | snv | 0.54 | 4 | ||
rs2981579 | 0.776 | 0.280 | 10 | 121577821 | intron variant | A/G | snv | 0.53 | 4 | ||
rs4784227 | 0.807 | 0.160 | 16 | 52565276 | intron variant | C/T | snv | 0.20 | 4 | ||
rs515726123 | 0.882 | 0.080 | 16 | 23636036 | frameshift variant | CT/- | delins | 1.4E-05 | 4 |