Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555565492 | 0.776 | 0.160 | 17 | 17795417 | frameshift variant | -/G | delins | 18 | |||
rs11624704 | 1.000 | 0.080 | 14 | 78319734 | intron variant | A/C | snv | 0.13 | 3 | ||
rs806379 | 1.000 | 0.040 | 6 | 88151548 | intron variant | A/C;T | snv | 2 | |||
rs1799971 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 95 | |
rs2030324 | 0.827 | 0.120 | 11 | 27705368 | intron variant | A/G | snv | 0.49 | 6 | ||
rs1565922395 | 0.925 | 12 | 79353602 | missense variant | A/G | snv | 5 | ||||
rs12364283 | 0.925 | 0.080 | 11 | 113476233 | upstream gene variant | A/G | snv | 5.8E-02 | 3 | ||
rs2161961 | 18 | 11774501 | intron variant | A/G | snv | 0.31 | 3 | ||||
rs10078866 | 1.000 | 0.080 | 5 | 175445317 | upstream gene variant | A/G | snv | 5.2E-02 | 2 | ||
rs11617488 | 13 | 21619823 | intergenic variant | A/G | snv | 0.27 | 1 | ||||
rs17110451 | 12 | 71930054 | downstream gene variant | A/G | snv | 0.12 | 1 | ||||
rs4659682 | 1 | 236518948 | intron variant | A/G | snv | 0.62 | 1 | ||||
rs265981 | 0.925 | 0.080 | 5 | 175443899 | 5 prime UTR variant | A/G;T | snv | 3 | |||
rs324981 | 0.724 | 0.320 | 7 | 34778501 | missense variant | A/T | snv | 0.44 | 0.47 | 18 | |
rs4290270 | 0.724 | 0.320 | 12 | 72022455 | synonymous variant | A/T | snv | 0.57 | 0.55 | 17 | |
rs1131691771 | 0.807 | 0.160 | 6 | 78958469 | splice donor variant | ACTT/- | delins | 18 | |||
rs1565962725 | 0.925 | 12 | 79448953 | missense variant | C/A | snv | 5 | ||||
rs594242 | 1.000 | 0.040 | 13 | 46883917 | intron variant | C/A;G | snv | 3 | |||
rs27072 | 0.807 | 0.120 | 5 | 1394407 | 3 prime UTR variant | C/A;T | snv | 11 | |||
rs75634836 | 0.807 | 0.160 | 13 | 46835532 | missense variant | C/A;T | snv | 4.0E-06 | 11 | ||
rs1473473 | 0.925 | 0.080 | 12 | 72010598 | intron variant | C/A;T | snv | 0.81 | 4 | ||
rs6296 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 23 | |
rs886041097 | 0.882 | 0.160 | 4 | 139386152 | stop gained | C/G | snv | 9 | |||
rs2110267 | 1.000 | 0.040 | 7 | 153838604 | intergenic variant | C/G | snv | 0.32 | 3 | ||
rs144900171 | 0.925 | 12 | 79448968 | missense variant | C/G;T | snv | 1.3E-04 | 6.2E-04 | 5 |