Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs279827 | 4 | 46332685 | splice region variant | A/G;T | snv | 0.44 | 0.41 | 2 | |||
rs6295 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 40 | ||
rs41423247 | 0.695 | 0.440 | 5 | 143399010 | intron variant | G/C | snv | 0.31 | 23 | ||
rs587784177 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 20 | |||
rs142441643 | 0.732 | 0.320 | 5 | 223509 | stop gained | C/T | snv | 2.0E-04 | 2.4E-04 | 15 | |
rs27072 | 0.807 | 0.120 | 5 | 1394407 | 3 prime UTR variant | C/A;T | snv | 11 | |||
rs1800044 | 0.827 | 0.200 | 5 | 63961061 | missense variant | C/A | snv | 3.7E-03 | 3.8E-03 | 8 | |
rs1561515242 | 1.000 | 0.080 | 5 | 111482938 | splice donor variant | G/A | snv | 6 | |||
rs375382379 | 0.882 | 0.160 | 5 | 143399792 | missense variant | T/C | snv | 4.0E-06 | 5 | ||
rs40184 | 0.851 | 0.120 | 5 | 1394962 | intron variant | C/T | snv | 0.45 | 5 | ||
rs550659379 | 0.882 | 0.160 | 5 | 143399780 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 5 | |
rs752834812 | 0.882 | 0.160 | 5 | 143399885 | missense variant | T/C | snv | 8.0E-06 | 5 | ||
rs772651364 | 0.882 | 0.160 | 5 | 143400050 | missense variant | C/T | snv | 4.0E-06 | 5 | ||
rs4916723 | 0.925 | 0.040 | 5 | 88558577 | intron variant | A/C;G;T | snv | 4 | |||
rs2400707 | 1.000 | 0.040 | 5 | 148825489 | 5 prime UTR variant | A/G;T | snv | 3 | |||
rs1799920 | 5 | 63961656 | missense variant | C/G;T | snv | 3.2E-04 | 2 | ||||
rs1799921 | 5 | 63961638 | missense variant | T/C | snv | 9.4E-03 | 9.3E-03 | 2 | |||
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs9340799 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 62 | ||
rs1360780 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 31 | |||
rs6296 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 23 | |
rs3800373 | 0.752 | 0.200 | 6 | 35574699 | 3 prime UTR variant | C/A | snv | 0.68 | 22 | ||
rs2023239 | 0.724 | 0.160 | 6 | 88150763 | intron variant | T/C | snv | 0.21 | 20 | ||
rs9296158 | 0.763 | 0.080 | 6 | 35599305 | intron variant | A/G | snv | 0.65 | 16 | ||
rs1060503383 | 0.882 | 0.200 | 6 | 33441318 | stop gained | C/T | snv | 14 |