| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs80356682 | 0.790 | 0.120 | 1 | 209625721 | stop gained | G/A | snv | 5.1E-04 | 4.8E-04 | 7 | |
| rs121912771 | 0.882 | 0.080 | 10 | 104034193 | missense variant | C/T | snv | 1.1E-04 | 1.5E-04 | 3 | |
| rs762236241 | 0.882 | 0.080 | 17 | 75757312 | splice donor variant | T/C | snv | 2.0E-05 | 3 | ||
| rs772038362 | 0.882 | 0.200 | 18 | 23939301 | stop gained | C/T | snv | 1.2E-05 | 7.0E-06 | 3 | |
| rs1186161867 | 0.882 | 0.080 | 1 | 209628034 | splice donor variant | C/A;T | snv | 1.4E-05 | 3 | ||
| rs774174881 | 0.882 | 0.080 | 1 | 209629852 | stop gained | A/C | snv | 4.0E-06 | 3 | ||
| rs80356680 | 0.882 | 0.080 | 1 | 209650023 | stop gained | G/A | snv | 5.6E-05 | 6.3E-05 | 3 | |
| rs121912769 | 0.925 | 0.080 | 10 | 104034711 | stop gained | G/A | snv | 2.1E-05 | 1.4E-05 | 2 | |
| rs121912773 | 0.925 | 0.080 | 10 | 104053072 | missense variant | C/T | snv | 2 | |||
| rs121912774 | 0.925 | 0.080 | 10 | 104072062 | stop gained | G/A | snv | 4.0E-06 | 2 | ||
| rs1181742615 | 0.925 | 0.080 | 18 | 23915298 | stop gained | C/G;T | snv | 4.0E-06; 8.0E-06 | 2 | ||
| rs121912482 | 0.925 | 0.080 | 1 | 209633070 | missense variant | C/T | snv | 7.0E-06 | 2 | ||
| rs769967565 | 0.925 | 0.080 | 1 | 209627502 | frameshift variant | TG/- | del | 2.0E-05 | 3.5E-05 | 2 | |
| rs772421306 | 0.925 | 0.080 | 1 | 209618519 | frameshift variant | C/- | delins | 1.6E-05 | 1.4E-05 | 2 | |
| rs118203901 | 0.925 | 0.080 | 1 | 183222181 | stop gained | C/T | snv | 2.1E-05 | 2 | ||
| rs1217053724 | 0.925 | 0.080 | 1 | 183243272 | stop gained | C/T | snv | 7.0E-06 | 2 | ||
| rs1064793760 | 1.000 | 0.080 | 10 | 104034179 | frameshift variant | T/- | del | 1 | |||
| rs121912770 | 1.000 | 0.080 | 10 | 104038409 | stop gained | G/A | snv | 4.0E-06 | 1 | ||
| rs121912772 | 1.000 | 0.080 | 10 | 104041526 | stop gained | A/C | snv | 1 | |||
| rs1478395810 | 1.000 | 0.080 | 10 | 104046775 | splice acceptor variant | T/C | snv | 1 | |||
| rs752317971 | 1.000 | 0.080 | 10 | 104043852 | stop gained | C/A;G | snv | 8.0E-06 | 1 | ||
| rs760094345 | 1.000 | 0.080 | 10 | 104076418 | stop gained | G/A;C | snv | 8.0E-06; 4.0E-06 | 1 | ||
| rs775196743 | 1.000 | 0.080 | 10 | 104080649 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 | 1 | |
| rs775244527 | 1.000 | 0.080 | 10 | 104036490 | splice donor variant | A/- | del | 2.5E-04 | 1 | ||
| rs797045084 | 1.000 | 0.080 | 10 | 104043576 | splice acceptor variant | CCCTCTGAAAAC/- | delins | 1 |