| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs863224229 | 0.925 | 0.200 | 9 | 133356441 | start lost | ACCGCCGCCATCGCACCCGGCCCC/- | delins | 4 | |||
| rs782316919 | 0.827 | 0.160 | 9 | 133351970 | frameshift variant | AG/- | delins | 8.4E-05 | 9 | ||
| rs1161932777 | 0.925 | 0.120 | 16 | 1772798 | splice donor variant | C/A | snv | 7.0E-06 | 2 | ||
| rs587780529 | 1.000 | 0.120 | MT | 10134 | missense variant | C/A | snv | 1 | |||
| rs397507549 | 0.742 | 0.240 | 12 | 112489104 | missense variant | C/A;G | snv | 13 | |||
| rs28384199 | 0.882 | 0.160 | MT | 11777 | missense variant | C/A;G | snv | 3 | |||
| rs72619327 | 1.000 | 0.120 | 9 | 133352593 | missense variant | C/A;G | snv | 4.0E-06; 1.4E-02 | 1 | ||
| rs759504704 | 0.882 | 0.200 | 11 | 78436786 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 4 | ||
| rs782609482 | 1.000 | 0.120 | 9 | 133352060 | splice donor variant | C/A;T | snv | 4.1E-06 | 4 | ||
| rs1131692037 | 0.925 | 0.120 | 16 | 1773083 | stop gained | C/A;T | snv | 2 | |||
| rs759452074 | 0.925 | 0.200 | 22 | 50523835 | missense variant | C/A;T | snv | 8.0E-06; 3.2E-05 | 2 | ||
| rs1391748504 | 1.000 | 0.120 | 9 | 133352143 | splice acceptor variant | C/G | snv | 7.0E-06 | 1 | ||
| rs863224926 | 1.000 | 0.120 | 9 | 133356268 | splice donor variant | C/G | snv | 1 | |||
| rs28939714 | 0.882 | 0.160 | 11 | 47582140 | missense variant | C/G;T | snv | 4.0E-06 | 3 | ||
| rs149481081 | 1.000 | 0.120 | 3 | 119517281 | stop gained | C/G;T | snv | 8.0E-06; 4.0E-06 | 1 | ||
| rs142441643 | 0.732 | 0.320 | 5 | 223509 | stop gained | C/T | snv | 2.0E-04 | 2.4E-04 | 15 | |
| rs113994098 | 0.742 | 0.320 | 15 | 89321792 | missense variant | C/T | snv | 1.5E-04 | 2.7E-04 | 12 | |
| rs762425351 | 0.925 | 0.200 | 9 | 129095573 | missense variant | C/T | snv | 1.2E-04 | 7.7E-05 | 8 | |
| rs1135402725 | 0.851 | 0.120 | 11 | 34995002 | stop gained | C/T | snv | 1.2E-05 | 6 | ||
| rs137852863 | 0.882 | 0.120 | 5 | 61073136 | stop gained | C/T | snv | 4.0E-05 | 3.5E-05 | 5 | |
| rs121908576 | 0.851 | 0.360 | 2 | 218661153 | stop gained | C/T | snv | 1.7E-04 | 2.9E-04 | 4 | |
| rs104894270 | 0.882 | 0.160 | 11 | 47582436 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 | 3 | |
| rs199476144 | 0.925 | 0.200 | MT | 1624 | non coding transcript exon variant | C/T | snv | 3 | |||
| rs758265405 | 0.882 | 0.280 | 19 | 5692127 | missense variant | C/T | snv | 1.6E-05 | 3 | ||
| rs758802403 | 0.882 | 0.280 | 19 | 5694510 | missense variant | C/T | snv | 2.0E-05 | 2.1E-05 | 3 |