Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12478462 | 1.000 | 0.120 | 2 | 152798206 | intergenic variant | T/G | snv | 0.28 | 1 | ||
rs1486134 | 1.000 | 0.120 | 2 | 67412637 | downstream gene variant | G/C;T | snv | 1 | |||
rs17275283 | 1.000 | 0.120 | 11 | 96970814 | intron variant | T/C | snv | 0.26 | 1 | ||
rs1944788 | 1.000 | 0.120 | 11 | 96947703 | intron variant | T/C | snv | 0.27 | 1 | ||
rs2218400 | 1.000 | 0.120 | 13 | 63564941 | intergenic variant | C/A | snv | 0.34 | 1 | ||
rs6537481 | 1.000 | 0.120 | 4 | 147474942 | intergenic variant | A/C;G | snv | 1 | |||
rs7330800 | 1.000 | 0.120 | 13 | 63573938 | intergenic variant | A/C;T | snv | 1 | |||
rs1555162597 | 1.000 | 0.120 | 12 | 51991357 | splice acceptor variant | ATGAAAAAAAATGTTCCTGGCTACTCTTTTGTATTTCTTTTTGTTTAGTTGTTTTGTTTGAGACAGAGTCTTGCACTCTTGTCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAACCTCTGCCTCCAGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGTGTTTGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCGTGTTGGCGGGGCTGGTTTCAAACTACTGATCTCAGGTGATCCGCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCCCTTTTGTGTATTTCTTGTTCCATACTTAGAATTAACTAACTTTCTAAGGAACCTTAGGGGGTAGTGGTATTTACAGAGCACAGTGTAGGTTTTGTCACCGGCTTCTGAGTAATCTTTTCCTGCTGTTGATAACTCAGGTAGATACTTTCTTTTCTCCCAGGAGTCCATGAAGAATATCAGCTGCCATATTACGACTTAGTGCCCTCTGACCCTTCCATTGAGGAAATGCGAAAGGTTGTATGTGATCAGAAGCTGCGTCCCAACATCCCCAACTGGTGGCAGAGTTATGAGGTAAGAAGCTGGCCTCCTGCGGCT/- | delins | 1 | |||
rs387906389 | 1.000 | 0.120 | 12 | 51986840 | frameshift variant | GATGA/- | del | 1 | |||
rs10983614 | 1.000 | 0.120 | 9 | 117306874 | intron variant | T/A;C | snv | 1 | |||
rs7190458 | 1.000 | 0.120 | 16 | 75229763 | synonymous variant | G/A | snv | 5.1E-02 | 0.11 | 1 | |
rs12620038 | 1.000 | 0.120 | 2 | 47248996 | intron variant | C/G;T | snv | 1 | |||
rs6662005 | 1.000 | 0.120 | 1 | 236276616 | intron variant | G/A | snv | 0.16 | 1 | ||
rs1169296 | 1.000 | 0.120 | 12 | 120990604 | intron variant | A/G | snv | 0.26 | 1 | ||
rs12951345 | 1.000 | 0.120 | 17 | 37717865 | intron variant | C/A | snv | 0.80 | 1 | ||
rs16861827 | 1.000 | 0.120 | 1 | 18351676 | intron variant | C/T | snv | 0.12 | 1 | ||
rs361052 | 1.000 | 0.120 | 3 | 13029299 | intron variant | A/G | snv | 0.73 | 1 | ||
rs981621 | 1.000 | 0.120 | 18 | 13357201 | intron variant | A/C;G | snv | 0.40 | 1 | ||
rs6971499 | 1.000 | 0.120 | 7 | 130995762 | intron variant | T/C | snv | 0.15 | 1 | ||
rs7214041 | 1.000 | 0.120 | 17 | 72405335 | intron variant | C/T | snv | 0.17 | 1 | ||
rs6073450 | 1.000 | 0.120 | 20 | 44458008 | intron variant | G/A | snv | 0.43 | 1 | ||
rs962856 | 1.000 | 0.120 | 2 | 67366671 | intron variant | C/T | snv | 0.66 | 1 | ||
rs9554197 | 1.000 | 0.120 | 13 | 27902841 | intron variant | C/T | snv | 0.34 | 1 | ||
rs1326889 | 1.000 | 0.120 | 1 | 230727252 | intron variant | C/A;T | snv | 1 | |||
rs450960 | 1.000 | 0.120 | 22 | 17833538 | intron variant | C/T | snv | 0.30 | 1 |