| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1554829415 | 1.000 | 0.120 | 9 | 95111394 | coding sequence variant | -/CTCTGCAAGCTCCTCTCAGCCCCCCAGAGCCCACCCCAAACACATGCAGTGGGGCCTGCTACCCACCATAGTCTGTGCTCTCTGCT | delins | 1 | |||
| rs1554833186 | 1.000 | 0.120 | 9 | 95126528 | splice donor variant | C/G | snv | 1 | |||
| rs863224441 | 1.000 | 0.120 | 9 | 95126527 | splice donor variant | A/C;T | snv | 1 | |||
| rs786202344 | 1.000 | 0.120 | 13 | 32357926 | missense variant | A/G | snv | 1 | |||
| rs1060501876 | 1.000 | 0.120 | 16 | 89767196 | frameshift variant | G/- | del | 4.0E-06 | 1 | ||
| rs1060501878 | 1.000 | 0.120 | 16 | 89773304 | stop gained | T/A | snv | 1 | |||
| rs1060501879 | 1.000 | 0.120 | 16 | 89791458 | missense variant | C/A;T | snv | 1 | |||
| rs1060501880 | 1.000 | 0.120 | 16 | 89764919 | stop gained | G/A;T | snv | 8.0E-06 | 1 | ||
| rs1166286386 | 1.000 | 0.120 | 16 | 89749781 | stop gained | C/T | snv | 1 | |||
| rs1338138752 | 1.000 | 0.120 | 16 | 89805345 | frameshift variant | CA/- | delins | 1 | |||
| rs1343140664 | 1.000 | 0.120 | 16 | 89778817 | frameshift variant | -/A | delins | 1 | |||
| rs1374769712 | 1.000 | 0.120 | 16 | 89742930 | frameshift variant | -/A | delins | 1.4E-05 | 1 | ||
| rs1380850249 | 1.000 | 0.120 | 16 | 89744978 | inframe deletion | CTT/- | delins | 1 | |||
| rs1447363475 | 1.000 | 0.120 | 16 | 89795941 | missense variant | A/C | snv | 1 | |||
| rs1555536446 | 1.000 | 0.120 | 16 | 89745063 | inframe deletion | CAC/- | delins | 1 | |||
| rs1555538740 | 1.000 | 0.120 | 16 | 89749884 | stop gained | C/A | snv | 1 | |||
| rs1567601557 | 1.000 | 0.120 | 16 | 89746830 | splice donor variant | C/G | snv | 1 | |||
| rs1567616135 | 1.000 | 0.120 | 16 | 89767153 | frameshift variant | -/CC | delins | 1 | |||
| rs1567628967 | 1.000 | 0.120 | 16 | 89783006 | splice acceptor variant | TGAGGTCGGCCAGCCGTGTCTTGGCCAATGAGATGTAGTCTGTGAGGAGGGAGCGGTACTTGCCGGGAACCAGGGGTGGGTGGAGAATGTGCACCT/- | delins | 1 | |||
| rs756140957 | 1.000 | 0.120 | 16 | 89778942 | splice donor variant | C/T | snv | 8.0E-06 | 1 | ||
| rs759899153 | 1.000 | 0.120 | 16 | 89778812 | frameshift variant | CT/- | delins | 1.4E-05 | 1 | ||
| rs777825824 | 1.000 | 0.120 | 16 | 89748691 | stop gained | C/A;T | snv | 1.6E-05 | 2.1E-05 | 1 | |
| rs786204204 | 1.000 | 0.120 | 16 | 89814517 | splice region variant | T/G | snv | 1 | |||
| rs786204238 | 1.000 | 0.120 | 16 | 89815969 | frameshift variant | C/- | delins | 1 | |||
| rs786204246 | 1.000 | 0.120 | 16 | 89746834 | inframe deletion | AAG/- | delins | 1 |