| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
| rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
| rs1805124 | 0.742 | 0.280 | 3 | 38603929 | missense variant | T/C | snv | 0.22 | 0.25 | 16 | |
| rs367814475 | 0.925 | 0.080 | 15 | 40415482 | missense variant | G/C;T | snv | 8.0E-06; 4.0E-06 | 9 | ||
| rs121434284 | 0.925 | 0.080 | 15 | 40405952 | missense variant | T/C | snv | 2 | |||
| rs121434285 | 0.925 | 0.080 | 15 | 40411600 | missense variant | G/T | snv | 8.0E-06; 8.0E-06 | 2.1E-05 | 2 | |
| rs1057516769 | 1.000 | 0.080 | 15 | 40413046 | frameshift variant | -/T | delins | 1 | |||
| rs1057517043 | 1.000 | 0.080 | 15 | 40411554 | splice acceptor variant | G/A | snv | 1 | |||
| rs1057517056 | 1.000 | 0.080 | 15 | 40416076 | splice acceptor variant | A/G | snv | 1 | |||
| rs1057517379 | 1.000 | 0.080 | 15 | 40405929 | frameshift variant | CG/- | del | 1 | |||
| rs1398838997 | 1.000 | 0.080 | 15 | 40410627 | splice acceptor variant | G/A | snv | 3.5E-05 | 1 | ||
| rs142761835 | 1.000 | 0.080 | 15 | 40410699 | missense variant | G/A | snv | 2.8E-05 | 1.3E-04 | 1 | |
| rs1477527791 | 1.000 | 0.080 | 15 | 40418175 | missense variant | G/A | snv | 1.4E-05 | 1 | ||
| rs1555403211 | 1.000 | 0.080 | 15 | 40407647 | frameshift variant | -/ATGG | delins | 1 | |||
| rs1555403942 | 1.000 | 0.080 | 15 | 40410819 | splice acceptor variant | ACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC/GTTG | delins | 1 | |||
| rs1555404426 | 1.000 | 0.080 | 15 | 40413013 | frameshift variant | -/T | delins | 1 | |||
| rs1555404784 | 1.000 | 0.080 | 15 | 40414888 | splice acceptor variant | G/A | snv | 1 | |||
| rs1555405067 | 1.000 | 0.080 | 15 | 40416077 | splice acceptor variant | G/T | snv | 1 | |||
| rs1555405070 | 1.000 | 0.080 | 15 | 40416090 | frameshift variant | A/- | delins | 1 | |||
| rs1555405080 | 1.000 | 0.080 | 15 | 40416109 | frameshift variant | C/- | delins | 1 | |||
| rs1555405428 | 1.000 | 0.080 | 15 | 40418219 | frameshift variant | GGCGGCTGGTCATCGGCAGAGCCTTCAA/- | delins | 1 | |||
| rs1566936542 | 1.000 | 0.080 | 15 | 40411601 | frameshift variant | C/- | delins | 1 | |||
| rs2229311 | 1.000 | 0.080 | 15 | 40407640 | missense variant | G/A;C;T | snv | 2.8E-05; 1.6E-05; 4.0E-06 | 1 | ||
| rs28940889 | 1.000 | 0.080 | 15 | 40415454 | missense variant | C/T | snv | 6.4E-04 | 7.5E-04 | 1 | |
| rs34695403 | 1.000 | 0.080 | 15 | 40407639 | missense variant | C/G;T | snv | 2.4E-05; 1.2E-05 | 1 |