| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs767517186 | 0.925 | 0.120 | 2 | 237334890 | splice acceptor variant | C/G | snv | 1.6E-05 | 4.2E-05 | 2 | |
| rs117725825 | 1.000 | 0.120 | 21 | 46132287 | missense variant | C/G;T | snv | 2.5E-03 | 1 | ||
| rs201093313 | 1.000 | 0.120 | 21 | 45989100 | missense variant | C/G;T | snv | 4.0E-06; 2.4E-05 | 1 | ||
| rs397515332 | 1.000 | 0.120 | 2 | 237361138 | missense variant | C/G;T | snv | 1 | |||
| rs1556425596 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 37 | |||
| rs398124126 | 0.882 | 0.160 | 2 | 237361120 | splice donor variant | C/T | snv | 3 | |||
| rs535661345 | 0.925 | 0.120 | 2 | 237372173 | missense variant | C/T | snv | 2.0E-04 | 2.1E-05 | 3 | |
| rs387906609 | 0.925 | 0.120 | 21 | 46117916 | stop gained | C/T | snv | 4.0E-06 | 2 | ||
| rs121434553 | 1.000 | 0.120 | 2 | 237367151 | missense variant | C/T | snv | 1 | |||
| rs1268762655 | 1.000 | 0.120 | 2 | 237350173 | missense variant | C/T | snv | 7.0E-06 | 1 | ||
| rs146092501 | 1.000 | 0.120 | 2 | 237371861 | missense variant | C/T | snv | 6.2E-03 | 5.9E-03 | 1 | |
| rs1555877252 | 1.000 | 0.120 | 21 | 46132064 | stop gained | C/T | snv | 1 | |||
| rs200478135 | 1.000 | 0.120 | 2 | 237363363 | missense variant | C/T | snv | 4.8E-05 | 3.5E-05 | 1 | |
| rs373072443 | 1.000 | 0.120 | 21 | 46131980 | missense variant | C/T | snv | 3.4E-05 | 2.8E-05 | 1 | |
| rs374669775 | 1.000 | 0.120 | 21 | 46121067 | stop gained | C/T | snv | 1.2E-05 | 1 | ||
| rs763348222 | 1.000 | 0.120 | 2 | 237348645 | missense variant | C/T | snv | 6.4E-05 | 1 | ||
| rs794727188 | 1.000 | 0.120 | 2 | 237360131 | missense variant | C/T | snv | 1 | |||
| rs886043737 | 1.000 | 0.120 | 2 | 237360158 | missense variant | C/T | snv | 1 | |||
| rs886044252 | 1.000 | 0.120 | 2 | 237360150 | missense variant | C/T | snv | 1 | |||
| rs1568929639 | 1.000 | 0.120 | 21 | 46116767 | splice acceptor variant | CAG/AA | delins | 1 | |||
| rs1559225974 | 1.000 | 0.120 | 2 | 237359238 | inframe deletion | CCT/- | delins | 1 | |||
| rs1555873353 | 1.000 | 0.120 | 21 | 46117387 | splice acceptor variant | CCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCT/- | del | 1 | |||
| rs1555873507 | 1.000 | 0.120 | 21 | 46117873 | splice region variant | G/- | delins | 1 | |||
| rs747900252 | 0.925 | 0.160 | 21 | 46125776 | intron variant | G/A | snv | 1.1E-04 | 7.7E-05 | 6 | |
| rs121912938 | 0.882 | 0.160 | 21 | 45989129 | missense variant | G/A | snv | 3 |