Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104894385 | 0.925 | 0.120 | 13 | 76992176 | stop gained | G/A;T | snv | 2.7E-05; 3.1E-05 | 2 | ||
rs104894386 | 0.925 | 0.120 | 13 | 76995077 | missense variant | G/A;C | snv | 8.0E-06 | 2 | ||
rs1057516390 | 1.000 | 0.120 | 13 | 76995901 | splice acceptor variant | G/- | del | 1 | |||
rs1057516814 | 1.000 | 0.120 | 13 | 76992171 | frameshift variant | TC/G | delins | 1 | |||
rs1057517134 | 1.000 | 0.120 | 13 | 76992250 | frameshift variant | ACTGGCCGGTGCC/- | delins | 1 | |||
rs121908292 | 1.000 | 0.120 | 13 | 77000799 | stop gained | G/T | snv | 1 | |||
rs147065248 | 1.000 | 0.120 | 13 | 76996034 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs148862100 | 1.000 | 0.120 | 13 | 77000866 | missense variant | A/G | snv | 1.3E-05 | 7.0E-06 | 1 | |
rs1555273567 | 1.000 | 0.120 | 13 | 76992116 | frameshift variant | C/- | del | 1 | |||
rs1555273609 | 1.000 | 0.120 | 13 | 76992215 | frameshift variant | G/- | delins | 1 | |||
rs1555273882 | 1.000 | 0.120 | 13 | 76995079 | frameshift variant | C/- | delins | 1 | |||
rs1555273992 | 1.000 | 0.120 | 13 | 76995998 | frameshift variant | T/- | delins | 1 | |||
rs1555274005 | 1.000 | 0.120 | 13 | 76996071 | frameshift variant | -/TGATG | delins | 1 | |||
rs1555274014 | 1.000 | 0.120 | 13 | 76996128 | splice donor variant | G/A | snv | 1 | |||
rs1555274312 | 1.000 | 0.120 | 13 | 77000416 | splice acceptor variant | GCTTTGTTCACTAGGTGACTTTGTTTTGTTTTTTTAAACTAGGAAACATGTTCAACCAAATGGCAAAGTGGGTGAAACAGGACAATGAAACAGGAATTTATTATGAGACATGGAATGTAAAAGCCAGCCCAGAAAAGGGGGCAGAGACATGGTTTGATTCCTACGACTGTTCCAAATTTGTGTTAAGGACCTTTAACAAGTTGGCTGAATTTGGAGCAGAGTTCAAGAACATAGAAACCAACTATACAAGAATATTTCTTTACAGTGGAGAACCTACTTATCTGGGAAATGAAACATCTGTTTTTGGGCCAACAGGAAACAAGACTCTTGGTTTAGCCATAAAAAGATTTTATTACCCCTTCAAACCACATTTGCCAACTAAAGAATTTCTGTTGAGTCTCTTGCAAATTTTTGATGCAGTGATTGTGCACAAACAGTTCTATTTGTTTTATAATTTTGAATATTGGTTTTTACCTATGAAATTCCCTTTTATTAAAATAACATATGAAGAAATCCCTTTACCTATCAGAAACAAAACACTCTCTGGTTTATAAAACACCTTAATTCTACTGCTCTTTTTTCTCCAATCACCAGCATCTG/- | del | 1 | |||
rs1555274337 | 1.000 | 0.120 | 13 | 77000556 | frameshift variant | -/CAGAGACA | delins | 1 | |||
rs1555274338 | 1.000 | 0.120 | 13 | 77000567 | stop gained | G/A;C | snv | 2 | |||
rs1555274343 | 1.000 | 0.120 | 13 | 77000594 | frameshift variant | GT/- | delins | 1 | |||
rs1555274344 | 1.000 | 0.120 | 13 | 77000605 | frameshift variant | CCTTTAAC/- | del | 1 | |||
rs1555274365 | 1.000 | 0.120 | 13 | 77000729 | frameshift variant | GGAA/- | delins | 1 | |||
rs1555274369 | 1.000 | 0.120 | 13 | 77000796 | frameshift variant | A/- | delins | 1 | |||
rs1555274373 | 1.000 | 0.120 | 13 | 77000808 | frameshift variant | T/- | delins | 1 | |||
rs1555274387 | 1.000 | 0.120 | 13 | 77000883 | frameshift variant | T/- | delins | 1 | |||
rs1566219136 | 1.000 | 0.120 | 13 | 76995993 | missense variant | G/A | snv | 1 | |||
rs200348035 | 1.000 | 0.120 | 13 | 76992182 | stop gained | G/A;T | snv | 4.5E-06 | 1 |