| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs11988997 | 1.000 | 0.040 | 8 | 118753955 | intron variant | C/T | snv | 7.4E-02 | 1 | ||
| rs1413293653 | 1.000 | 0.040 | 16 | 84866923 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs142022985 | 1.000 | 0.040 | 9 | 33798530 | missense variant | A/G | snv | 1.2E-03 | 1.5E-03 | 1 | |
| rs1553134935 | 1.000 | 0.040 | 1 | 15445655 | frameshift variant | CATCG/- | delins | 1 | |||
| rs4751995 | 1.000 | 0.040 | 10 | 116638373 | splice acceptor variant | A/G;T | snv | 0.49 | 0.55 | 1 | |
| rs762727745 | 1.000 | 0.040 | 8 | 11847803 | synonymous variant | G/A | snv | 1.7E-05 | 1 | ||
| rs773552397 | 1.000 | 0.040 | 3 | 122284641 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 1 | ||
| rs775626498 | 1.000 | 0.040 | 16 | 84850577 | missense variant | G/A | snv | 1 | |||
| rs9111 | 1.000 | 0.040 | 6 | 90271934 | 5 prime UTR variant | C/G;T | snv | 1 | |||
| rs1303 | 0.925 | 0.040 | 14 | 94378506 | missense variant | T/G | snv | 0.28 | 0.22 | 4 | |
| rs761886494 | 0.925 | 0.040 | 8 | 19955870 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 3 | |
| rs13324142 | 0.925 | 0.120 | 3 | 48632014 | missense variant | C/G;T | snv | 4.0E-06; 9.8E-02 | 2 | ||
| rs139729994 | 0.925 | 0.120 | 7 | 117614713 | missense variant | G/A;T | snv | 4.0E-06; 1.3E-04 | 2 | ||
| rs1554499091 | 0.925 | 0.040 | 7 | 142751884 | missense variant | T/C | snv | 2 | |||
| rs2995271 | 0.925 | 0.040 | 10 | 30230903 | regulatory region variant | C/T | snv | 0.64 | 2 | ||
| rs4409525 | 0.925 | 0.040 | X | 106897095 | intron variant | G/A | snv | 0.28 | 2 | ||
| rs497078 | 0.925 | 0.040 | 1 | 15440540 | synonymous variant | C/A;T | snv | 3.7E-03; 9.1E-02 | 2 | ||
| rs752688735 | 0.925 | 0.040 | 7 | 142752547 | missense variant | G/A | snv | 2 | |||
| rs113857788 | 0.882 | 0.160 | 7 | 117664780 | missense variant | G/C;T | snv | 1.0E-03; 6.0E-05 | 5 | ||
| rs587777636 | 0.882 | 0.080 | 8 | 143213935 | missense variant | G/A;C | snv | 6.5E-06 | 4 | ||
| rs747940576 | 0.882 | 0.120 | 8 | 11853351 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 4 | |
| rs12008279 | 0.882 | 0.080 | X | 106917472 | intron variant | A/G;T | snv | 3 | |||
| rs148954387 | 0.882 | 0.080 | 5 | 147828020 | splice donor variant | A/G;T | snv | 3.1E-04 | 3 | ||
| rs121909293 | 0.851 | 0.080 | 1 | 15445717 | missense variant | C/T | snv | 4.4E-03 | 3.8E-03 | 5 | |
| rs118204082 | 0.851 | 0.120 | 8 | 19955863 | missense variant | C/G;T | snv | 1.5E-04 | 4 |