Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1565679039 | 0.701 | 0.400 | 12 | 47983399 | stop gained | T/A | snv | 45 | |||
rs1364709483 | 0.701 | 0.360 | 17 | 61400235 | missense variant | G/A | snv | 6.5E-05 | 36 | ||
rs387907141 | 0.752 | 0.360 | 6 | 157181137 | stop gained | C/T | snv | 24 | |||
rs16260 | 0.716 | 0.440 | 16 | 68737131 | upstream gene variant | C/A | snv | 0.24 | 19 | ||
rs587783446 | 0.763 | 0.280 | 8 | 60850546 | stop gained | C/T | snv | 19 | |||
rs61749721 | 0.732 | 0.200 | X | 154031065 | stop gained | G/A | snv | 17 | |||
rs642961 | 0.732 | 0.440 | 1 | 209815925 | intergenic variant | A/G | snv | 0.84 | 14 | ||
rs1556914274 | 0.790 | 0.440 | X | 53537626 | missense variant | G/A | snv | 13 | |||
rs12532 | 0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 | 10 | ||
rs522616 | 0.763 | 0.320 | 11 | 102844317 | upstream gene variant | T/C | snv | 0.23 | 10 | ||
rs797044484 | 0.776 | 0.400 | 3 | 189868624 | missense variant | C/G | snv | 10 | |||
rs1555564126 | 0.882 | 0.320 | 17 | 44853306 | frameshift variant | C/- | delins | 9 | |||
rs587777450 | 0.790 | 0.320 | 18 | 10671729 | missense variant | C/T | snv | 9 | |||
rs104894110 | 0.776 | 0.280 | 9 | 97854108 | missense variant | C/T | snv | 8 | |||
rs1554496813 | 0.827 | 0.160 | 7 | 152177839 | frameshift variant | -/G | delins | 8 | |||
rs104893810 | 0.790 | 0.360 | 3 | 30691477 | missense variant | C/T | snv | 7 | |||
rs7650466 | 0.851 | 0.200 | 3 | 89481208 | 3 prime UTR variant | C/T | snv | 0.23 | 7 | ||
rs864309532 | 0.807 | 0.360 | X | 134393952 | missense variant | G/A | snv | 7 | |||
rs4752028 | 0.807 | 0.200 | 10 | 117075480 | intron variant | C/T | snv | 0.73 | 6 | ||
rs4783099 | 0.827 | 0.200 | 16 | 84907723 | 3 prime UTR variant | C/T | snv | 0.37 | 6 | ||
rs10130587 | 0.851 | 0.200 | 14 | 53952392 | intron variant | G/C | snv | 0.45 | 5 | ||
rs1057516039 | 0.882 | 0.280 | 12 | 49029400 | splice donor variant | C/T | snv | 5 | |||
rs11466285 | 0.851 | 0.200 | 2 | 70450307 | 3 prime UTR variant | A/C;G | snv | 5 | |||
rs13041247 | 0.851 | 0.200 | 20 | 40640434 | regulatory region variant | T/C | snv | 0.36 | 5 |