| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs2070025 | 1.000 | 0.040 | 4 | 154590672 | missense variant | T/C | snv | 7.6E-03 | 2.5E-03 | 1 | |
| rs774917188 | 1.000 | 0.040 | 6 | 38677366 | missense variant | C/T | snv | 8.0E-06 | 1 | ||
| rs1276905604 | 1.000 | 0.040 | X | 14581319 | missense variant | A/G | snv | 9.5E-06 | 1 | ||
| rs775988247 | 1.000 | 0.040 | 6 | 146399020 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 1 | ||
| rs1569305431 | 1.000 | 0.040 | X | 53254702 | frameshift variant | G/- | delins | 1 | |||
| rs2317385 | 1.000 | 0.040 | 17 | 47252316 | upstream gene variant | G/A | snv | 0.23 | 1 | ||
| rs55827077 | 1.000 | 0.040 | 17 | 47253717 | upstream gene variant | G/C | snv | 0.23 | 1 | ||
| rs1186689 | 1.000 | 0.040 | 1 | 160053263 | intron variant | G/T | snv | 0.49 | 1 | ||
| rs1564801473 | 1.000 | 0.040 | 10 | 87864406 | 5 prime UTR variant | -/C | delins | 1 | |||
| rs20556 | 1.000 | 0.040 | 7 | 107953544 | missense variant | T/C | snv | 0.65 | 0.66 | 1 | |
| rs2158836 | 1.000 | 0.040 | 7 | 107940394 | non coding transcript exon variant | A/G | snv | 0.63 | 0.64 | 1 | |
| rs25659 | 1.000 | 0.040 | 7 | 107986325 | synonymous variant | G/A | snv | 0.12 | 0.11 | 1 | |
| rs1568820 | 1.000 | 0.040 | 7 | 55413206 | intron variant | A/G | snv | 0.33 | 1 | ||
| rs141560292 | 1.000 | 0.040 | 1 | 162154408 | missense variant | G/A | snv | 1.6E-05 | 7.7E-05 | 1 | |
| rs375712202 | 1.000 | 0.040 | 11 | 124923339 | splice donor variant | C/T | snv | 9.6E-05 | 1.4E-05 | 1 | |
| rs20317 | 1.000 | 0.040 | 15 | 26773790 | intron variant | G/A;C;T | snv | 1 | |||
| rs2283727 | 1.000 | 0.040 | X | 43773697 | intron variant | G/A;T | snv | 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 | |||
| rs12539160 | 1.000 | 0.040 | 7 | 73606109 | splice region variant | C/A;T | snv | 2.8E-02 | 3.0E-02 | 1 | |
| rs762735676 | 1.000 | 0.040 | 17 | 31221945 | frameshift variant | TTT/-;TTTT | delins | 6.6E-05 | 1 | ||
| rs1488545 | 1.000 | 0.040 | 3 | 173765644 | intron variant | C/A | snv | 0.80 | 1 | ||
| rs966805126 | 1.000 | 0.040 | 3 | 173604861 | missense variant | C/T | snv | 1 | |||
| rs4844286 | 1.000 | 0.040 | X | 71151724 | intron variant | T/G | snv | 1 | |||
| rs8068149 | 1.000 | 0.040 | 17 | 27761829 | intron variant | G/A | snv | 0.48 | 1 |