| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs2276724 | 1.000 | 0.080 | 3 | 126135566 | missense variant | T/C | snv | 0.14 | 0.15 | 1 | |
| rs2280235 | 1.000 | 0.080 | 2 | 190979104 | splice region variant | A/G | snv | 0.23 | 1 | ||
| rs2830581 | 1.000 | 0.080 | 21 | 26921481 | 3 prime UTR variant | G/A;C | snv | 1 | |||
| rs3096380 | 1.000 | 0.080 | 16 | 71285743 | missense variant | G/A;C | snv | 0.94 | 1 | ||
| rs34675408 | 1.000 | 0.080 | 5 | 38883969 | missense variant | T/G | snv | 8.3E-02 | 9.7E-02 | 1 | |
| rs397514032 | 1.000 | 0.080 | 5 | 112828923 | frameshift variant | A/- | delins | 1 | |||
| rs405 | 1.000 | 0.080 | 7 | 91917013 | intergenic variant | G/A;C;T | snv | 1 | |||
| rs455804 | 1.000 | 0.080 | 21 | 29773850 | intron variant | A/C;G | snv | 1 | |||
| rs4678680 | 1.000 | 0.080 | 3 | 32978543 | intergenic variant | G/T | snv | 0.73 | 1 | ||
| rs567116808 | 1.000 | 0.080 | 8 | 17646137 | missense variant | T/C | snv | 3.0E-04 | 2.0E-04 | 1 | |
| rs584368 | 1.000 | 0.080 | 11 | 88232053 | regulatory region variant | C/T | snv | 0.70 | 1 | ||
| rs587776627 | 1.000 | 0.080 | 16 | 309973 | frameshift variant | GGGAATGTGAGGTAGGGGCACCCGCCCATTGA/- | del | 1 | |||
| rs587776665 | 1.000 | 0.080 | 2 | 201285238 | frameshift variant | GT/- | delins | 1 | |||
| rs6078460 | 1.000 | 0.080 | 20 | 12116249 | intergenic variant | A/C;G;T | snv | 1 | |||
| rs61733703 | 1.000 | 0.080 | 8 | 17755585 | stop gained | G/A;T | snv | 1.6E-05; 2.4E-03 | 1 | ||
| rs760687800 | 1.000 | 0.080 | 14 | 54411563 | missense variant | C/A;G | snv | 4.0E-06; 2.4E-05 | 1 | ||
| rs761113892 | 1.000 | 0.080 | 11 | 20376622 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 1 | ||
| rs779951904 | 1.000 | 0.080 | 16 | 310055 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 1 | |
| rs7976497 | 1.000 | 0.080 | 12 | 120697664 | 3 prime UTR variant | T/C | snv | 0.60 | 1 | ||
| rs913493 | 1.000 | 0.080 | 13 | 67148073 | intron variant | A/G | snv | 0.20 | 1 | ||
| rs137854575 | 0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 | 9 | ||
| rs137854573 | 0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv | 8 | |||
| rs145945630 | 0.827 | 0.120 | 5 | 112754960 | stop gained | C/T | snv | 2.4E-05 | 7 | ||
| rs397515734 | 0.827 | 0.120 | 5 | 112792494 | stop gained | C/T | snv | 7 | |||
| rs587781392 | 0.827 | 0.120 | 5 | 112780895 | stop gained | C/G;T | snv | 7 |