| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
| rs1188383936 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 102 | ||
| rs387907306 | 0.925 | 0.160 | 1 | 2228866 | missense variant | G/A;T | snv | 4 | |||
| rs863223722 | 1.000 | 0.160 | 1 | 2229305 | missense variant | C/A;T | snv | 2 | |||
| rs121434514 | 1.000 | 0.160 | 10 | 68989100 | stop gained | C/T | snv | 1 | |||
| rs121434515 | 1.000 | 0.160 | 10 | 68989082 | stop gained | G/A;T | snv | 1 | |||
| rs730882150 | 1.000 | 0.160 | 10 | 69005119 | stop gained | C/A | snv | 3.2E-05 | 6.3E-05 | 1 | |
| rs730882151 | 1.000 | 0.160 | 10 | 69005124 | frameshift variant | AG/- | del | 1 | |||
| rs1553189986 | 1.000 | 0.160 | 1 | 2229402 | inframe deletion | TCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGC/- | delins | 1 | |||
| rs1557806222 | 1.000 | 0.160 | 1 | 2228834 | missense variant | A/C | snv | 1 | |||
| rs387907303 | 1.000 | 0.160 | 1 | 2229113 | missense variant | G/A | snv | 1 | |||
| rs387907304 | 1.000 | 0.160 | 1 | 2228860 | missense variant | C/G;T | snv | 1 | |||
| rs387907305 | 1.000 | 0.160 | 1 | 2228867 | missense variant | G/A;T | snv | 1 | |||
| rs397514589 | 1.000 | 0.160 | 1 | 2228870 | missense variant | C/A;G | snv | 1 | |||
| rs397514590 | 1.000 | 0.160 | 1 | 2228869 | missense variant | C/T | snv | 1 | |||
| rs398122889 | 1.000 | 0.160 | 1 | 2229046 | inframe deletion | GACCGCTCC/- | delins | 1 | |||
| rs398122914 | 1.000 | 0.160 | 1 | 2229046 | inframe deletion | TCCGACCGCTCC/- | del | 1 | |||
| rs869025525 | 1.000 | 0.160 | 1 | 2229118 | missense variant | G/A | snv | 1 | |||
| rs869312901 | 1.000 | 0.160 | 1 | 2229115 | missense variant | G/C | snv | 1 | |||
| rs869312902 | 1.000 | 0.160 | 1 | 2228828 | missense variant | T/G | snv | 1 |