Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs141322087 | 0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 13 | |
rs1344172059 | 0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 | 12 | ||
rs1060499548 | 0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv | 27 | |||
rs868064163 | 1.000 | 0.040 | 3 | 179586552 | missense variant | C/T | snv | 7.0E-06 | 13 | ||
rs387906846 | 0.807 | 0.280 | 1 | 26773716 | stop gained | C/G;T | snv | 19 | |||
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs762642 | 1.000 | 0.040 | 14 | 53956335 | splice region variant | A/C | snv | 0.35 | 2 | ||
rs1346496644 | 1 | 85581440 | missense variant | C/G;T | snv | 1 | |||||
rs768000961 | 4 | 121823490 | missense variant | G/A | snv | 8.1E-06 | 1 | ||||
rs1554333853 | 0.689 | 0.320 | 7 | 40046006 | missense variant | A/G | snv | 54 | |||
rs759125480 | 0.827 | 0.160 | 5 | 123377409 | stop gained | G/A | snv | 1.6E-05 | 16 | ||
rs199715380 | 2 | 130597533 | missense variant | C/T | snv | 2 | |||||
rs2579433 | 2 | 130522115 | missense variant | T/A;C | snv | 1 | |||||
rs1563595095 | 0.776 | 0.320 | 8 | 60781285 | frameshift variant | AA/T | delins | 10 | |||
rs367557471 | 1.000 | 0.120 | 8 | 60822055 | stop gained | C/A;T | snv | 5.2E-05 | 7.0E-05 | 4 | |
rs1567263168 | 0.851 | 0.240 | 16 | 3729444 | missense variant | C/T | snv | 10 | |||
rs1567053134 | 0.925 | 0.040 | 15 | 74345160 | frameshift variant | AG/- | del | 8 | |||
rs769402060 | 0.925 | 0.120 | 2 | 38075022 | missense variant | A/G | snv | 3.3E-05 | 4.2E-05 | 3 | |
rs769236847 | 0.807 | 0.200 | 7 | 97869011 | missense variant | C/T | snv | 4.0E-06 | 3.5E-05 | 8 | |
rs1553284997 | 0.790 | 0.400 | 1 | 92833544 | splice acceptor variant | G/C | snv | 17 | |||
rs886042604 | 1.000 | 0.120 | X | 33020138 | splice donor variant | C/G;T | snv | 3 | |||
rs2298444 | 0.925 | 0.120 | 11 | 72221370 | intron variant | T/C | snv | 0.27 | 3 | ||
rs104894073 | 0.827 | 0.080 | 8 | 11750213 | missense variant | G/A;C;T | snv | 8 | |||
rs804280 | 0.882 | 0.120 | 8 | 11755189 | intron variant | C/A;G | snv | 6 |