| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs11214077 | 0.752 | 0.120 | 11 | 112087953 | missense variant | A/G | snv | 6.6E-03 | 6.7E-03 | 12 | |
| rs121918464 | 0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv | 25 | |||
| rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
| rs2229992 | 0.827 | 0.200 | 5 | 112827157 | stop gained | T/C;G | snv | 0.58 | 0.47 | 6 | |
| rs137854573 | 0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv | 10 | |||
| rs137854574 | 0.925 | 0.120 | 5 | 112828919 | stop gained | C/T | snv | 4 | |||
| rs777980327 | 0.716 | 0.280 | 5 | 112837567 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 | 21 | |
| rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
| rs1801155 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 42 | |
| rs1801166 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 17 | |
| rs12255372 | 0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv | 28 | |||
| rs11283943 | 0.882 | 0.160 | 5 | 113071088 | splice donor variant | -/CGCACTGTCTTCCT;CGCGCTGTCTTCCT;CGTGCTGTCTTCCT | delins | 4 | |||
| rs587776946 | 1.000 | 1 | 113114471 | stop gained | C/T | snv | 2 | ||||
| rs200817352 | 1.000 | 0.080 | 2 | 113220126 | missense variant | G/A;C | snv | 2.0E-03; 4.0E-06 | 2 | ||
| rs121913254 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 31 | |||
| rs121913237 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 50 | ||
| rs1372834410 | 3 | 11558705 | missense variant | C/T | snv | 1 | |||||
| rs1250394819 | 0.807 | 0.240 | 5 | 115616325 | missense variant | C/T | snv | 4.0E-06 | 9 | ||
| rs34589476 | 0.827 | 0.160 | 7 | 116771869 | missense variant | C/T | snv | 2.9E-03 | 3.2E-03 | 7 | |
| rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
| rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs1800449 | 0.641 | 0.400 | 5 | 122077513 | missense variant | C/A;T | snv | 4.0E-06; 0.17 | 33 | ||
| rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
| rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 |