| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs767181086 | 0.827 | 0.240 | 1 | 183220922 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 11 | ||
| rs137853066 | 0.827 | 0.320 | 1 | 160042339 | missense variant | C/G;T | snv | 8.0E-06 | 7 | ||
| rs886041761 | 0.925 | 0.200 | 1 | 110603902 | missense variant | C/T | snv | 6 | |||
| rs1057518821 | 1.000 | 1 | 42930671 | frameshift variant | -/C | delins | 5 | ||||
| rs1057518011 | 1 | 1535766 | missense variant | C/T | snv | 4 | |||||
| rs587777004 | 1.000 | 0.080 | 1 | 244842055 | missense variant | A/C;G | snv | 4.0E-06 | 3 | ||
| rs771578775 | 1.000 | 0.080 | 1 | 226982996 | stop gained | C/T | snv | 4.5E-05 | 5.6E-05 | 3 | |
| rs387906799 | 0.742 | 0.200 | 2 | 240788118 | missense variant | G/A | snv | 19 | |||
| rs1320457487 | 1.000 | 0.120 | 2 | 44301057 | missense variant | G/A | snv | 8.0E-06 | 3 | ||
| rs1424215334 | 1.000 | 0.120 | 2 | 44280805 | missense variant | A/G | snv | 2.1E-05 | 3 | ||
| rs200248046 | 1.000 | 0.120 | 2 | 44299998 | missense variant | G/A;C | snv | 4.0E-06; 8.0E-06 | 3 | ||
| rs143319805 | 0.807 | 0.320 | 3 | 193643378 | missense variant | A/G | snv | 6.2E-04 | 5.7E-04 | 12 | |
| rs148156462 | 0.925 | 0.080 | 4 | 83264287 | missense variant | A/G | snv | 4.2E-03 | 1.6E-03 | 3 | |
| rs1043679457 | 0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv | 33 | |||
| rs1561515242 | 1.000 | 0.080 | 5 | 111482938 | splice donor variant | G/A | snv | 6 | |||
| rs531630376 | 1.000 | 0.080 | 5 | 141955844 | stop gained | C/A | snv | 4.0E-06 | 4 | ||
| rs119456965 | 1.000 | 0.080 | 5 | 139050960 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 | 3 | |
| rs373893038 | 5 | 14387508 | missense variant | C/T | snv | 8.0E-06 | 4.2E-05 | 1 | |||
| rs1554768245 | 0.807 | 0.160 | 6 | 152472395 | frameshift variant | C/- | delins | 16 | |||
| rs145465528 | 0.882 | 0.240 | 6 | 129143976 | missense variant | C/T | snv | 6.0E-05 | 9.1E-05 | 7 | |
| rs1057518796 | 1.000 | 6 | 33443751 | frameshift variant | C/- | delins | 3 | ||||
| rs774214806 | 1.000 | 6 | 146159536 | stop gained | C/A;T | snv | 1.6E-05 | 2 | |||
| rs375244209 | 1.000 | 0.040 | 7 | 76302870 | missense variant | G/A | snv | 1.1E-05 | 2 | ||
| rs181109321 | 0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 | 17 | ||
| rs58982919 | 0.790 | 0.080 | 8 | 24956223 | missense variant | T/C | snv | 10 |