| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1318256630 | 11 | 66708251 | missense variant | G/A | snv | 4.1E-06 | 2 | ||||
| rs1320457487 | 1.000 | 0.120 | 2 | 44301057 | missense variant | G/A | snv | 8.0E-06 | 3 | ||
| rs1335702493 | 0.925 | 0.200 | 9 | 32973507 | stop gained | C/A;T | snv | 4 | |||
| rs137852763 | 0.851 | 0.320 | 11 | 94476318 | missense variant | C/G | snv | 6 | |||
| rs138249161 | 0.827 | 0.240 | 12 | 106432421 | missense variant | T/A | snv | 2.7E-04 | 3.0E-04 | 8 | |
| rs1424215334 | 1.000 | 0.120 | 2 | 44280805 | missense variant | A/G | snv | 2.1E-05 | 3 | ||
| rs143319805 | 0.807 | 0.320 | 3 | 193643378 | missense variant | A/G | snv | 6.2E-04 | 5.7E-04 | 12 | |
| rs1553281318 | 0.882 | 0.120 | 1 | 226986536 | frameshift variant | -/A | delins | 7 | |||
| rs1553878395 | 0.925 | 0.080 | 4 | 25127263 | splice acceptor variant | AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/- | delins | 5 | |||
| rs181109321 | 0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 | 17 | ||
| rs199476133 | 0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv | 18 | |||
| rs200248046 | 1.000 | 0.120 | 2 | 44299998 | missense variant | G/A;C | snv | 4.0E-06; 8.0E-06 | 3 | ||
| rs201754030 | 0.925 | 0.200 | 12 | 57796461 | stop gained | C/T | snv | 1.5E-03 | 1.3E-03 | 5 | |
| rs2307441 | 0.882 | 0.080 | 15 | 89318595 | missense variant | T/C | snv | 2.9E-02 | 2.7E-02 | 6 | |
| rs267606670 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 19 | |||
| rs267606695 | 1.000 | 0.160 | 8 | 60266044 | missense variant | A/C;G | snv | 5 | |||
| rs267607044 | 1.000 | 0.080 | 9 | 132327718 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 3 | |
| rs28933381 | 0.925 | 0.080 | 12 | 4912102 | missense variant | G/C | snv | 4 | |||
| rs28933383 | 0.851 | 0.120 | 12 | 4912055 | missense variant | C/A;G;T | snv | 8 | |||
| rs28933385 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 25 | ||
| rs3512 | 0.925 | 0.160 | 15 | 30942802 | 3 prime UTR variant | G/C | snv | 0.27 | 4 | ||
| rs58332872 | 0.882 | 0.080 | 8 | 24956248 | missense variant | C/T | snv | 5 | |||
| rs587777004 | 1.000 | 0.080 | 1 | 244842055 | missense variant | A/C;G | snv | 4.0E-06 | 3 | ||
| rs587777343 | 0.925 | 0.120 | 16 | 682232 | missense variant | C/T | snv | 5 | |||
| rs58982919 | 0.790 | 0.080 | 8 | 24956223 | missense variant | T/C | snv | 10 |