Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131692272 | 0.851 | 0.240 | 2 | 100006808 | missense variant | C/T | snv | 9 | |||
rs374993554 | 0.925 | 7 | 100113899 | missense variant | A/G;T | snv | 3.2E-05 | 3 | |||
rs758946412 | 0.790 | 0.240 | X | 100407507 | frameshift variant | G/-;GG | delins | 12 | |||
rs1562846694 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 32 | |||
rs1131692228 | 0.925 | 0.160 | 7 | 100646637 | missense variant | C/T | snv | 5 | |||
rs1060499738 | 1.000 | 7 | 100647014 | missense variant | C/T | snv | 7.0E-06 | 2 | |||
rs1553920383 | 0.925 | 4 | 101032350 | frameshift variant | TC/- | delins | 3 | ||||
rs786203986 | 0.925 | 13 | 101176371 | missense variant | G/A;C | snv | 4.3E-06 | 3 | |||
rs1555268712 | 0.882 | 0.160 | 12 | 101757459 | coding sequence variant | -/ATTTTAGAACAGTGCTTAATAGACAAAATATTGTAGAATTATAAAAAAGCCAGACCTTTGTGATTACTCTTATACTAAACAAAGGGAGTATGCGTGTACTACTTACCTATATTTGTTTTTGTCCTTATATGCTTTGTGGATTTTGTCAGTTACTGGTTTACAGTTTGTTACTAGACTTTTAGTGACCGGTGGCTATGAGAAAATATAA | delins | 3 | |||
rs1060499687 | 0.882 | 0.160 | 12 | 101757657 | splice acceptor variant | GC/AT | mnv | 3 | |||
rs1060499739 | 1.000 | 3 | 101757754 | missense variant | A/G | snv | 2 | ||||
rs1057518776 | 0.925 | 0.080 | 14 | 101986027 | missense variant | T/A | snv | 4 | |||
rs1064796765 | 0.763 | 0.240 | 14 | 102002950 | missense variant | G/A | snv | 19 | |||
rs1567010427 | 0.882 | 14 | 102010824 | missense variant | G/A | snv | 11 | ||||
rs1057518961 | 0.925 | 0.040 | 14 | 102012450 | missense variant | C/T | snv | 5 | |||
rs200345816 | 0.925 | 0.040 | 7 | 102283048 | missense variant | C/G;T | snv | 6.0E-05; 4.0E-06 | 3 | ||
rs866294686 | 0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv | 43 | |||
rs750371878 | 0.925 | 6 | 104796666 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 4 | ||
rs1562927768 | 0.790 | 0.080 | 7 | 105101476 | frameshift variant | AAAGA/- | delins | 15 | |||
rs1560755661 | 0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins | 44 | |||
rs374319146 | 0.851 | 0.080 | 4 | 106194717 | splice donor variant | C/A;T | snv | 4.3E-06; 8.7E-06 | 6 | ||
rs398122855 | 0.882 | 0.240 | X | 107642384 | missense variant | G/C | snv | 5 | |||
rs80338848 | 0.851 | 0.240 | 7 | 107675051 | missense variant | T/C | snv | 2.7E-04 | 3.4E-04 | 6 | |
rs111033212 | 0.851 | 0.240 | 7 | 107689054 | missense variant | T/A;C | snv | 4.0E-06; 8.6E-04 | 4 | ||
rs397514513 | 0.882 | 0.080 | 4 | 107945426 | missense variant | A/T | snv | 4 |