Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1567542019 | 1.000 | 0.120 | 17 | 7670673 | stop gained | C/A | snv | 1 | |||
rs1567542031 | 1.000 | 0.120 | 17 | 7670673 | frameshift variant | C/- | del | 1 | |||
rs1567542043 | 1.000 | 0.120 | 17 | 7670675 | frameshift variant | TCAGCTCT/- | delins | 1 | |||
rs121912662 | 0.925 | 0.120 | 17 | 7670678 | missense variant | A/G | snv | 2 | |||
rs375573770 | 0.882 | 0.080 | 17 | 7670682 | missense variant | C/G | snv | 7.0E-06 | 3 | ||
rs375338359 | 0.882 | 0.200 | 17 | 7670684 | missense variant | C/G;T | snv | 8.0E-06 | 4 | ||
rs1131691022 | 0.827 | 0.160 | 17 | 7670685 | frameshift variant | GG/A;G | delins | 6 | |||
rs1321845532 | 0.851 | 0.160 | 17 | 7670685 | frameshift variant | GG/A;G | delins | 4 | |||
rs730882029 | 0.882 | 0.200 | 17 | 7670685 | stop gained | G/A | snv | 4 | |||
rs1131691005 | 17 | 7670691 | frameshift variant | T/- | del | 1 | |||||
rs17882252 | 0.925 | 0.120 | 17 | 7670694 | stop gained | C/A;G;T | snv | 8.0E-06; 6.4E-05 | 2 | ||
rs1567542146 | 1.000 | 0.120 | 17 | 7670694 | frameshift variant | -/A | ins | 1 | |||
rs1131691040 | 17 | 7670698 | frameshift variant | GC/- | delins | 1 | |||||
rs121912664 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 44 | ||
rs587782529 | 0.851 | 0.200 | 17 | 7670700 | missense variant | G/A;C | snv | 8 | |||
rs771939956 | 17 | 7670705 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | |||
rs1567542245 | 1.000 | 0.120 | 17 | 7670706 | splice acceptor variant | CCCACGGATCTGCAGCAACAGAGGAGGGGGAG/- | delins | 1 | |||
rs730882028 | 1.000 | 0.120 | 17 | 7670709 | missense variant | C/A;G;T | snv | 4.0E-06 | 3 | ||
rs573154688 | 1.000 | 0.160 | 17 | 7670711 | missense variant | C/T | snv | 4.4E-05 | 3.5E-05 | 3 | |
rs1567542299 | 1.000 | 0.120 | 17 | 7670712 | frameshift variant | GG/- | del | 1 | |||
rs587782272 | 1.000 | 0.120 | 17 | 7670716 | splice acceptor variant | C/G;T | snv | 2 | |||
rs867389695 | 17 | 7670717 | splice acceptor variant | T/C | snv | 1 | |||||
rs1641549 | 17 | 7671457 | intron variant | C/T | snv | 0.35 | 1 | ||||
rs993079710 | 1.000 | 17 | 7673244 | missense variant | C/T | snv | 1 | ||||
rs771319678 | 1.000 | 17 | 7673250 | missense variant | C/T | snv | 2.7E-05 | 1 |