Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs138049094 | 1.000 | 0.120 | 2 | 237369064 | missense variant | T/C | snv | 5.1E-04 | 3.0E-04 | 1 | |
rs138948335 | 1.000 | 0.120 | 21 | 46125817 | stop gained | G/A;T | snv | 1.0E-04 | 1.4E-05 | 1 | |
rs139260335 | 1.000 | 0.120 | 2 | 237344571 | missense variant | T/C | snv | 6.1E-04 | 5.6E-04 | 1 | |
rs146092501 | 1.000 | 0.120 | 2 | 237371861 | missense variant | C/T | snv | 6.2E-03 | 5.9E-03 | 1 | |
rs1553553267 | 1.000 | 0.120 | 2 | 237359235 | splice acceptor variant | TTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGT/- | delins | 1 | |||
rs1553553313 | 1.000 | 0.120 | 2 | 237359334 | splice acceptor variant | TTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCAC/- | del | 1 | |||
rs1553553646 | 1.000 | 0.120 | 2 | 237360140 | missense variant | C/A;T | snv | 1 | |||
rs1553561409 | 1.000 | 0.120 | 2 | 237377222 | stop gained | G/A | snv | 1 | |||
rs1555873353 | 1.000 | 0.120 | 21 | 46117387 | splice acceptor variant | CCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCT/- | del | 1 | |||
rs1555873356 | 1.000 | 0.120 | 21 | 46117398 | splice acceptor variant | A/C;G | snv | 1 | |||
rs1555873507 | 1.000 | 0.120 | 21 | 46117873 | splice region variant | G/- | delins | 1 | |||
rs1555873508 | 1.000 | 0.120 | 21 | 46117876 | frameshift variant | C/- | delins | 1 | |||
rs1555877252 | 1.000 | 0.120 | 21 | 46132064 | stop gained | C/T | snv | 1 | |||
rs1556423728 | 1.000 | 0.120 | 21 | 45982682 | frameshift variant | C/- | delins | 1 | |||
rs1556425467 | 1.000 | 0.120 | 21 | 45989102 | missense variant | G/C;T | snv | 1 | |||
rs1556425468 | 1.000 | 0.120 | 21 | 45989103 | missense variant | G/T | snv | 1 | |||
rs1556425474 | 1.000 | 0.120 | 21 | 45989120 | inframe deletion | AGCCGGAGA/- | delins | 1 | |||
rs1556425566 | 1.000 | 0.120 | 21 | 45989753 | missense variant | G/A | snv | 1 | |||
rs1556425687 | 1.000 | 0.120 | 21 | 45990284 | splice donor variant | GGTGAGCG/- | del | 1 | |||
rs1556425717 | 1.000 | 0.120 | 21 | 45990376 | splice acceptor variant | A/G | snv | 1 | |||
rs1556425835 | 1.000 | 0.120 | 21 | 45990771 | splice acceptor variant | A/- | del | 1 | |||
rs1559225974 | 1.000 | 0.120 | 2 | 237359238 | inframe deletion | CCT/- | delins | 1 | |||
rs1559225993 | 1.000 | 0.120 | 2 | 237359252 | splice acceptor variant | T/C | snv | 1 | |||
rs1559234260 | 1.000 | 0.120 | 2 | 237365697 | splice donor variant | C/A | snv | 1 | |||
rs1559261557 | 1.000 | 0.120 | 2 | 237381113 | stop gained | G/A | snv | 1 |