Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691027 | 17 | 7673776 | frameshift variant | G/- | delins | 1 | |||||
rs1131691031 | 17 | 7676041 | frameshift variant | GGAAA/TTTT | delins | 1 | |||||
rs1131691035 | 17 | 7674939 | frameshift variant | C/- | delins | 1 | |||||
rs1131691037 | 17 | 7675220 | missense variant | T/A | snv | 1 | |||||
rs1131691038 | 17 | 7676043 | frameshift variant | A/TTGGG | delins | 1 | |||||
rs1131691040 | 17 | 7670698 | frameshift variant | GC/- | delins | 1 | |||||
rs1305324490 | 17 | 7673738 | missense variant | C/G | snv | 4.0E-06 | 1 | ||||
rs137852790 | 17 | 7675153 | frameshift variant | GGCGGGGGTGTGG/-;G | delins | 1 | |||||
rs1460793472 | 17 | 7676187 | missense variant | T/C | snv | 4.0E-06 | 1 | ||||
rs1555524976 | 17 | 7673578 | frameshift variant | T/- | del | 1 | |||||
rs1555525156 | 17 | 7673756 | frameshift variant | -/CTTCTCTTCCTCTGTGC | delins | 1 | |||||
rs1555525158 | 17 | 7673757 | frameshift variant | -/CT | delins | 1 | |||||
rs1555525226 | 17 | 7673777 | frameshift variant | -/C | ins | 1 | |||||
rs1555525344 | 17 | 7673824 | stop gained | CC/AG | mnv | 1 | |||||
rs1555525470 | 17 | 7674209 | frameshift variant | G/- | delins | 1 | |||||
rs1555525486 | 17 | 7674219 | inframe deletion | CGGTTCATGCCGCCC/- | delins | 1 | |||||
rs1555525537 | 17 | 7674249 | frameshift variant | A/- | del | 1 | |||||
rs1555525539 | 17 | 7674249 | frameshift variant | CA/- | delins | 1 | |||||
rs1555525710 | 17 | 7674861 | frameshift variant | GGCGGCTCATAGGGCA/- | delins | 1 | |||||
rs1555526004 | 17 | 7675079 | missense variant | T/G | snv | 1 | |||||
rs1555526082 | 17 | 7675100 | frameshift variant | CGTC/- | delins | 1 | |||||
rs1555526250 | 17 | 7675191 | frameshift variant | -/GGTCT | delins | 1 | |||||
rs1555526565 | 17 | 7676040 | frameshift variant | CGGAAACCGTAGCTGCCCTG/- | del | 1 | |||||
rs1555526610 | 17 | 7676090 | frameshift variant | GGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCA/- | delins | 1 | |||||
rs1555526711 | 17 | 7676171 | missense variant | C/T | snv | 1 |