| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs543698823 | 0.882 | 0.080 | 4 | 16006637 | frameshift variant | -/A | delins | 2.2E-04 | 2.1E-04 | 4 | |
| rs1401818080 | 8 | 43197027 | splice region variant | -/A | delins | 4.0E-06; 1.2E-05 | 1.4E-05 | 1 | |||
| rs878853366 | 1 | 197344433 | frameshift variant | -/A | delins | 1 | |||||
| rs878853389 | 14 | 21326071 | frameshift variant | -/A | ins | 1 | |||||
| rs1553192432 | 1 | 94060712 | frameshift variant | -/C | delins | 1 | |||||
| rs878853347 | 10 | 84196622 | frameshift variant | -/C | delins | 1 | |||||
| rs878853385 | 14 | 88431196 | frameshift variant | -/C | delins | 1 | |||||
| rs869312188 | 6 | 63720752 | frameshift variant | -/CC | delins | 1 | |||||
| rs1553403585 | 2 | 73449482 | frameshift variant | -/CTATTCTGGACTG | ins | 1 | |||||
| rs878853364 | 1 | 197421440 | frameshift variant | -/CTTA | ins | 1 | |||||
| rs1553263218 | 1 | 197435404 | frameshift variant | -/G | delins | 1 | |||||
| rs1554824273 | 10 | 84258712 | 3 prime UTR variant | -/G | delins | 1 | |||||
| rs1554628460 | 9 | 2717843 | frameshift variant | -/GTTCCGGCTCCCAGGCCAGCATCCACGGCTGGACAGAGGGCAACTATAACTACTACATCGAGGAAGACGAAGACGGCGAGGAGGAGGACCAGTGGAAGGACGACCTGGCAGAAGAGGACCAGCAGGCAGGGGAGGTCACCACCGCCAAGCCCGAGGGCCCCAGCGACCCTCCGGCCCTGCTGTCC | delins | 1 | |||||
| rs768660614 | 3 | 101320304 | frameshift variant | -/T | delins | 4.0E-06 | 1 | ||||
| rs748531024 | 1.000 | 0.080 | 21 | 44339161 | frameshift variant | -/TGCACGCTGTGCAGCT | ins | 4.4E-05; 2.2E-05 | 7.7E-05 | 2 | |
| rs767295178 | 3 | 121770503 | frameshift variant | -/TGCCACA | delins | 2.4E-05 | 7.0E-06 | 1 | |||
| rs1555302200 | 0.925 | 0.120 | 14 | 21326029 | frameshift variant | -/TT | delins | 4 | |||
| rs1057518939 | 1.000 | 0.040 | 8 | 99511424 | frameshift variant | A/- | del | 9 | |||
| rs878853410 | 0.925 | 0.200 | 1 | 216321969 | frameshift variant | A/- | del | 3 | |||
| rs1555792415 | 19 | 54122531 | frameshift variant | A/- | delins | 1 | |||||
| rs2723341 | 0.807 | 0.160 | 15 | 71811481 | splice acceptor variant | A/C | snv | 5.3E-04 | 5.1E-04 | 8 | |
| rs398123575 | 1.000 | 0.080 | 6 | 63864319 | stop gained | A/C | snv | 1.9E-05 | 4.2E-05 | 2 | |
| rs1554186385 | 6 | 42178410 | missense variant | A/C | snv | 1 | |||||
| rs773233587 | 1 | 197421540 | missense variant | A/C | snv | 4.0E-06 | 1 | ||||
| rs1553186896 | 1.000 | 1 | 94005490 | missense variant | A/C;G | snv | 2 |