| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1799750 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 48 | ||
| rs1223231582 | 0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 | 24 | ||
| rs11568818 | 0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv | 15 | |||
| rs111033566 | 0.742 | 0.280 | 7 | 142750600 | missense variant | A/C;T | snv | 11 | |||
| rs267606982 | 0.742 | 0.120 | 7 | 142751938 | missense variant | GC/AT | mnv | 11 | |||
| rs10273639 | 0.776 | 0.280 | 7 | 142749077 | upstream gene variant | T/A;C | snv | 9 | |||
| rs61734659 | 0.790 | 0.160 | 7 | 142774035 | missense variant | G/A | snv | 1.4E-02 | 8 | ||
| rs748405415 | 0.790 | 0.160 | 7 | 142773993 | stop gained | G/A;T | snv | 8 | |||
| rs773891125 | 0.827 | 0.120 | 8 | 19955896 | frameshift variant | CT/- | delins | 6 | |||
| rs12688220 | 0.827 | 0.200 | X | 107001537 | upstream gene variant | C/T | snv | 0.19 | 5 | ||
| rs7057398 | 0.827 | 0.080 | X | 106901299 | intron variant | T/C | snv | 0.41 | 5 | ||
| rs12008279 | 0.882 | 0.080 | X | 106917472 | intron variant | A/G;T | snv | 3 | |||
| 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 | ||
| rs752688735 | 0.925 | 0.040 | 7 | 142752547 | missense variant | G/A | snv | 2 | |||
| rs11988997 | 1.000 | 0.040 | 8 | 118753955 | intron variant | C/T | snv | 7.4E-02 | 1 | ||
| rs1553134935 | 1.000 | 0.040 | 1 | 15445655 | frameshift variant | CATCG/- | delins | 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 | |||
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs387906698 | 0.827 | 0.040 | 7 | 142751919 | missense variant | C/A;T | snv | 4.0E-06; 7.2E-05 | 8 | ||
| rs1413293653 | 1.000 | 0.040 | 16 | 84866923 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs747940576 | 0.882 | 0.120 | 8 | 11853351 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 4 | |
| rs777418530 | 0.763 | 0.120 | 16 | 84845883 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 10 |