| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs61755320 | 0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 | 41 | |
| rs75184679 | 0.776 | 0.360 | 13 | 50945445 | missense variant | G/A | snv | 1.4E-03 | 1.4E-03 | 16 | |
| rs66864704 | 0.882 | 0.280 | 16 | 16188907 | missense variant | A/G | snv | 1.2E-04 | 3.6E-04 | 10 | |
| rs768823392 | 0.827 | 0.120 | 16 | 89546657 | coding sequence variant | GGCGGGAGA/- | delins | 2.6E-04 | 4.2E-04 | 10 | |
| rs1057518813 | 0.790 | 0.240 | 13 | 102873305 | frameshift variant | CT/- | delins | 8 | |||
| rs767350733 | 0.882 | 0.120 | 2 | 201724392 | stop gained | G/A | snv | 2.0E-05 | 7 | ||
| rs104894743 | 0.807 | 0.200 | X | 25012937 | missense variant | G/A | snv | 7 | |||
| rs864622269 | 0.851 | 0.240 | 14 | 50628394 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 6 | |
| rs797045050 | 0.807 | 0.120 | 2 | 240797715 | missense variant | C/T | snv | 6 | |||
| rs121908345 | 0.827 | 0.240 | 22 | 50080391 | missense variant | G/A | snv | 1.3E-04 | 6.3E-05 | 6 | |
| rs119476046 | 0.827 | 0.240 | 14 | 50613343 | missense variant | C/T | snv | 5 | |||
| rs104894490 | 0.827 | 0.240 | 15 | 22812252 | missense variant | G/A;C | snv | 5 | |||
| rs1364050643 | 0.851 | 0.240 | 2 | 86232711 | missense variant | G/A | snv | 5 | |||
| rs869312880 | 0.882 | 0.120 | 2 | 86232624 | splice donor variant | C/T | snv | 5 | |||
| rs1057518760 | 1.000 | 0.080 | 2 | 240788182 | missense variant | C/T | snv | 4 | |||
| rs121434444 | 0.882 | 0.160 | 12 | 57569648 | missense variant | C/T | snv | 2.8E-05 | 7.0E-06 | 4 | |
| rs137852520 | 0.851 | 0.200 | X | 153868866 | missense variant | C/T | snv | 4 | |||
| rs397514513 | 0.882 | 0.080 | 4 | 107945426 | missense variant | A/T | snv | 4 | |||
| rs1060499939 | 0.882 | 0.120 | 2 | 32137172 | missense variant | G/C;T | snv | 4 | |||
| rs398123108 | 0.925 | 0.200 | X | 153743211 | intron variant | G/A;T | snv | 3 | |||
| rs116171274 | 0.882 | 0.120 | 8 | 64596707 | missense variant | G/A;T | snv | 5.2E-04; 8.0E-06 | 3 | ||
| rs121908613 | 0.882 | 0.120 | 8 | 64615716 | stop gained | A/G;T | snv | 7.6E-05 | 3 | ||
| rs72554620 | 0.882 | 0.200 | 8 | 64604753 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 3 | |
| rs121434441 | 0.882 | 0.240 | 12 | 57569015 | missense variant | A/G | snv | 3 | |||
| rs1085307110 | 0.925 | 0.120 | 3 | 134650909 | frameshift variant | -/ATGTCGATAGATACAGCACATGTCGATA | ins | 3 |