| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057518794 | X | 25004777 | frameshift variant | TCTG/- | delins | 1 | |||||
| rs797046136 | 10 | 129848391 | splice donor variant | C/A | snv | 1 | |||||
| rs1057519450 | 14 | 73537826 | frameshift variant | AGCCGGTGCGCGCG/- | delins | 1 | |||||
| rs1561500885 | 1.000 | 0.040 | 5 | 70946138 | missense variant | T/C | snv | 2 | |||
| rs1555736565 | 0.925 | 0.080 | 19 | 13230191 | missense variant | C/A;T | snv | 3 | |||
| rs1554301637 | 0.925 | 0.120 | 6 | 129464289 | splice acceptor variant | TCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTG/- | delins | 3 | |||
| rs1057516031 | 1.000 | 0.080 | X | 150598681 | stop gained | G/T | snv | 3 | |||
| rs778899140 | 0.925 | 6 | 165450268 | missense variant | T/C | snv | 4.0E-06 | 3 | |||
| rs1057518928 | 1.000 | 0.040 | 12 | 23665471 | missense variant | G/A | snv | 3 | |||
| rs777593389 | 1.000 | 0.320 | 8 | 99156693 | stop gained | C/T | snv | 4.0E-06 | 3 | ||
| rs1057516032 | 1.000 | 19 | 41970211 | protein altering variant | AGTCT/GA | delins | 4 | ||||
| rs397514627 | 0.882 | 0.160 | 10 | 73842486 | missense variant | C/A;G | snv | 4 | |||
| rs1085307451 | 0.925 | 0.160 | 3 | 47848246 | missense variant | C/T | snv | 4 | |||
| rs767961672 | 0.925 | 0.200 | 14 | 28767822 | missense variant | G/A;T | snv | 4.0E-06 | 4 | ||
| rs750371878 | 0.925 | 6 | 104796666 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 4 | ||
| rs748190164 | 0.925 | 0.160 | 15 | 72356531 | missense variant | C/G;T | snv | 4.0E-06 | 4 | ||
| rs1553654413 | 0.925 | 0.240 | 3 | 4627877 | splice region variant | CGTA/- | delins | 4 | |||
| rs397514582 | 0.925 | 20 | 63439656 | missense variant | C/A;T | snv | 4 | ||||
| rs878853163 | 0.925 | 0.200 | 2 | 199323850 | stop gained | T/A;C | snv | 4 | |||
| rs869312664 | 0.925 | 0.160 | 2 | 165386920 | stop gained | G/A;T | snv | 4 | |||
| rs145999922 | 0.882 | 0.040 | 2 | 227699378 | missense variant | A/G | snv | 4.4E-05 | 4.2E-05 | 4 | |
| rs775835429 | 0.925 | 0.040 | 2 | 227702236 | frameshift variant | -/TC | delins | 2.4E-05 | 2.1E-05 | 4 | |
| rs782609482 | 1.000 | 0.120 | 9 | 133352060 | splice donor variant | C/A;T | snv | 4.1E-06 | 4 | ||
| rs1554558365 | 0.925 | 0.120 | 8 | 93804851 | inframe insertion | -/TATGAA | delins | 4 | |||
| rs121434578 | 1.000 | 0.080 | 16 | 8768248 | missense variant | G/A | snv | 5 |