Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs398652 | 0.752 | 0.240 | 14 | 56058851 | intergenic variant | G/A | snv | 0.24 | 1 | ||
rs405 | 1.000 | 0.080 | 7 | 91917013 | intergenic variant | G/A;C;T | snv | 1 | |||
rs584368 | 1.000 | 0.080 | 11 | 88232053 | regulatory region variant | C/T | snv | 0.70 | 1 | ||
rs6078460 | 1.000 | 0.080 | 20 | 12116249 | intergenic variant | A/C;G;T | snv | 1 | |||
rs8099917 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 1 | ||
rs9275319 | 0.807 | 0.200 | 6 | 32698518 | intergenic variant | A/G | snv | 0.15 | 1 | ||
rs2830581 | 1.000 | 0.080 | 21 | 26921481 | 3 prime UTR variant | G/A;C | snv | 1 | |||
rs387906659 | 0.742 | 0.280 | 19 | 40257052 | stop gained | C/A;T | snv | 1 | |||
rs863223904 | 0.827 | 0.200 | X | 55014829 | missense variant | C/T | snv | 6.1E-06 | 1 | ||
rs2276724 | 1.000 | 0.080 | 3 | 126135566 | missense variant | T/C | snv | 0.14 | 0.15 | 1 | |
rs999885 | 0.925 | 0.120 | 7 | 100103553 | intron variant | G/A | snv | 0.56 | 0.46 | 1 | |
rs397514032 | 1.000 | 0.080 | 5 | 112828923 | frameshift variant | A/- | delins | 1 | |||
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 1 | ||
rs116350678 | 1.000 | 0.080 | 16 | 298233 | missense variant | C/T | snv | 4.8E-03 | 2.3E-02 | 1 | |
rs117208012 | 1.000 | 0.080 | 16 | 297063 | missense variant | C/A;T | snv | 8.0E-06; 1.6E-02 | 1 | ||
rs587776627 | 1.000 | 0.080 | 16 | 309973 | frameshift variant | GGGAATGTGAGGTAGGGGCACCCGCCCATTGA/- | del | 1 | |||
rs779951904 | 1.000 | 0.080 | 16 | 310055 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 1 | |
rs587776665 | 1.000 | 0.080 | 2 | 201285238 | frameshift variant | GT/- | delins | 1 | |||
rs1049334 | 0.851 | 0.280 | 7 | 116560326 | 3 prime UTR variant | G/A;T | snv | 1 | |||
rs710190 | 0.925 | 0.200 | 22 | 39131785 | 3 prime UTR variant | T/C | snv | 0.48 | 1 | ||
rs16893344 | 0.807 | 0.160 | 8 | 133194036 | intron variant | C/T | snv | 0.29 | 1 | ||
rs144479038 | 1.000 | 0.080 | 14 | 54411612 | missense variant | A/G | snv | 3.4E-04 | 2.4E-04 | 1 | |
rs760687800 | 1.000 | 0.080 | 14 | 54411563 | missense variant | C/A;G | snv | 4.0E-06; 2.4E-05 | 1 | ||
rs4950928 | 0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv | 1 | |||
rs3096380 | 1.000 | 0.080 | 16 | 71285743 | missense variant | G/A;C | snv | 0.94 | 1 |