| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121908445 | 0.925 | 0.040 | 7 | 148147542 | missense variant | T/C | snv | 3.3E-04 | 1.7E-04 | 1 | |
| rs2710102 | 0.790 | 0.120 | 7 | 147877298 | intron variant | A/G;T | snv | 1 | |||
| rs7794745 | 0.851 | 0.040 | 7 | 146792514 | intron variant | A/T | snv | 0.49 | 1 | ||
| rs1396313317 | 1.000 | 0.040 | 7 | 147562137 | splice acceptor variant | G/A;C | snv | 4.0E-06 | 1 | ||
| rs769236847 | 0.807 | 0.200 | 7 | 97869011 | missense variant | C/T | snv | 4.0E-06 | 3.5E-05 | 1 | |
| rs1564950387 | 1.000 | 0.040 | 11 | 687909 | splice donor variant | A/C | snv | 1 | |||
| rs2289195 | 1.000 | 0.040 | 2 | 25240614 | intron variant | G/A | snv | 0.41 | 0.41 | 1 | |
| rs10498676 | 0.925 | 0.040 | 6 | 11026766 | intron variant | G/A | snv | 0.18 | 1 | ||
| rs17606561 | 1.000 | 0.040 | 6 | 10982126 | 3 prime UTR variant | G/A | snv | 0.17 | 1 | ||
| rs3756963 | 0.882 | 0.200 | 6 | 11021921 | intron variant | T/C | snv | 0.24 | 1 | ||
| rs9468304 | 1.000 | 0.040 | 6 | 11041932 | intron variant | G/A | snv | 0.19 | 1 | ||
| rs4534 | 0.925 | 0.240 | 8 | 142879686 | missense variant | C/T | snv | 8.4E-02 | 4.1E-02 | 1 | |
| rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 1 | |
| rs1569305431 | 1.000 | 0.040 | X | 53254702 | frameshift variant | G/- | delins | 1 | |||
| rs1564801473 | 1.000 | 0.040 | 10 | 87864406 | 5 prime UTR variant | -/C | delins | 1 | |||
| rs16976358 | 0.827 | 0.080 | 18 | 42611606 | intron variant | T/C | snv | 1.0E-02 | 1 | ||
| rs10497655 | 1.000 | 0.040 | 2 | 184597314 | intron variant | T/C;G | snv | 1 | |||
| rs375712202 | 1.000 | 0.040 | 11 | 124923339 | splice donor variant | C/T | snv | 9.6E-05 | 1.4E-05 | 1 | |
| rs4141463 | 0.925 | 0.040 | 20 | 14766825 | intron variant | T/C | snv | 0.50 | 1 | ||
| rs587777457 | 0.925 | 0.200 | X | 43731695 | missense variant | G/T | snv | 1 | |||
| rs61753971 | 0.925 | 0.120 | X | 154030546 | missense variant | C/T | snv | 1.3E-04 | 1.1E-04 | 1 | |
| rs1561824498 | 1.000 | 0.040 | 5 | 88752044 | splice acceptor variant | C/A | snv | 1 | |||
| rs796052733 | 1.000 | 0.040 | 5 | 88731773 | stop gained | G/A | snv | 1 | |||
| rs1858830 | 0.925 | 0.040 | 7 | 116672385 | 5 prime UTR variant | C/G | snv | 0.40 | 1 | ||
| rs762735676 | 1.000 | 0.040 | 17 | 31221945 | frameshift variant | TTT/-;TTTT | delins | 6.6E-05 | 1 |