Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4744712 | 1.000 | 0.080 | 9 | 68819791 | intron variant | A/C;T | snv | 1 | |||
rs571461077 | 18 | 69609487 | intron variant | ATAAATAA/-;ATAA;ATAAATAAATAA;ATAAATAAATAAATAA;ATAAATAAATAAATAAATAA;ATAAATAAATAAATAAATAAATAA | delins | 1 | |||||
rs58206678 | 18 | 69609487 | intron variant | ATAAATAA/-;ATAA;ATAAATAAATAA;ATAAATAAATAAATAA;ATAAATAAATAAATAAATAA;ATAAATAAATAAATAAATAAATAA | delins | 1 | |||||
rs6046 | 0.925 | 0.080 | 13 | 113118845 | missense variant | G/A;C;T | snv | 0.13 | 1 | ||
rs6546837 | 2 | 73450771 | missense variant | G/C;T | snv | 0.27 | 1 | ||||
rs6865647 | 5 | 59103374 | intron variant | A/G;T | snv | 1 | |||||
rs911119 | 0.807 | 0.120 | 20 | 23632100 | non coding transcript exon variant | C/G;T | snv | 1 | |||
rs3782886 | 0.724 | 0.480 | 12 | 111672685 | synonymous variant | T/C | snv | 1.9E-02 | 5.9E-03 | 7 | |
rs2070600 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 4 | |
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 14 | |
rs16864170 | 1.000 | 0.080 | 2 | 5767748 | intergenic variant | T/C | snv | 3.8E-02 | 1 | ||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 1 | |
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 10 | |
rs968567 | 0.851 | 0.240 | 11 | 61828092 | intron variant | C/T | snv | 0.11 | 3 | ||
rs7943728 | 1.000 | 0.080 | 11 | 61779596 | intron variant | G/A | snv | 0.12 | 0.11 | 1 | |
rs12917707 | 0.827 | 0.200 | 16 | 20356368 | upstream gene variant | G/T | snv | 0.14 | 2 | ||
rs6428106 | 1 | 192585301 | intron variant | G/T | snv | 0.14 | 1 | ||||
rs267734 | 0.925 | 0.120 | 1 | 150979001 | upstream gene variant | T/C | snv | 0.14 | 1 | ||
rs12575381 | 11 | 135033566 | regulatory region variant | G/A | snv | 0.16 | 1 | ||||
rs7784820 | 7 | 80420717 | intron variant | A/G | snv | 0.16 | 1 | ||||
rs4293393 | 0.827 | 0.200 | 16 | 20353266 | intron variant | A/G | snv | 0.20 | 2 | ||
rs2014355 | 0.925 | 0.120 | 12 | 120737721 | non coding transcript exon variant | T/C | snv | 0.22 | 1 | ||
rs738409 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 5 | |
rs1367117 | 1.000 | 0.080 | 2 | 21041028 | missense variant | G/A | snv | 0.26 | 0.24 | 3 | |
rs6581768 | 12 | 67683408 | intergenic variant | A/G | snv | 0.25 | 1 |