| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs281865192 | 0.742 | 0.280 | 12 | 88101183 | intron variant | T/C | snv | 2.8E-04 | 11 | ||
| rs539400286 | 0.763 | 0.280 | 12 | 88086083 | stop gained | G/A | snv | 1.6E-05 | 2.1E-05 | 9 | |
| rs150726175 | 0.776 | 0.200 | 1 | 9982630 | missense variant | G/A | snv | 7.0E-04 | 8.5E-04 | 9 | |
| rs397515360 | 0.807 | 0.160 | 8 | 86643781 | frameshift variant | G/- | del | 1.8E-03 | 8 | ||
| rs386834152 | 0.790 | 0.280 | 12 | 88114488 | stop gained | G/A | snv | 5.1E-05 | 4.9E-05 | 7 | |
| rs62645748 | 0.807 | 0.080 | 1 | 197434706 | missense variant | G/A | snv | 2.1E-04 | 2.2E-04 | 7 | |
| rs61750130 | 0.807 | 0.080 | 1 | 94031110 | missense variant | G/A | snv | 2.4E-04 | 2.3E-04 | 6 | |
| rs727503855 | 0.807 | 0.240 | 12 | 88118528 | frameshift variant | TT/-;T;TTT | delins | 7.1E-06 | 6 | ||
| rs775796581 | 0.851 | 0.120 | 8 | 86666951 | frameshift variant | AGTCTGGG/- | delins | 5.2E-05 | 7.0E-05 | 5 | |
| rs386834261 | 0.882 | 0.080 | 14 | 67729337 | frameshift variant | CCCTG/- | delins | 9.1E-05 | 5 | ||
| rs61750168 | 0.851 | 0.080 | 17 | 8013918 | missense variant | C/G;T | snv | 4.0E-06; 1.5E-04 | 4 | ||
| rs758593134 | 0.851 | 0.200 | 12 | 88140955 | splice donor variant | C/T | snv | 4.6E-06 | 4 | ||
| rs61749423 | 0.925 | 0.040 | 1 | 94060656 | stop gained | G/A;T | snv | 8.0E-06; 4.4E-05 | 3 | ||
| rs61751404 | 0.882 | 0.080 | 1 | 94021340 | missense variant | G/A;C | snv | 3.2E-05; 4.0E-06 | 3 | ||
| rs114342808 | 0.882 | 0.080 | 1 | 197421404 | stop gained | C/T | snv | 3.2E-05 | 1.4E-05 | 3 | |
| rs281865175 | 0.882 | 0.080 | 1 | 197477775 | frameshift variant | CAACTCAGGG/- | delins | 3 | |||
| rs62636271 | 0.882 | 0.080 | 1 | 197427880 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 3 | |
| rs62636275 | 0.851 | 0.080 | 1 | 197435170 | missense variant | G/A | snv | 2.8E-05 | 3.5E-05 | 3 | |
| rs62645752 | 0.882 | 0.080 | 1 | 197328961 | frameshift variant | ATAGGAA/- | delins | 3 | |||
| rs61749670 | 0.882 | 0.080 | 17 | 8003434 | frameshift variant | C/- | delins | 1.7E-05 | 7.0E-06 | 3 | |
| rs387907009 | 0.882 | 0.200 | 3 | 121790166 | stop gained | C/A | snv | 1.2E-05 | 3 | ||
| rs750962965 | 0.882 | 0.200 | 3 | 121808978 | frameshift variant | AA/- | delins | 1.0E-04 | 1.4E-04 | 3 | |
| rs866395428 | 1.000 | 0.040 | 6 | 79493633 | stop gained | G/A | snv | 3 | |||
| rs121917745 | 0.851 | 0.080 | 1 | 68429835 | missense variant | G/A | snv | 8.0E-06 | 2.8E-05 | 3 | |
| rs61751279 | 0.882 | 0.080 | 1 | 68446862 | splice acceptor variant | T/A | snv | 2.0E-05 | 1.4E-05 | 3 |