Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs727505367 | 1.000 | 0.040 | 4 | 67753986 | missense variant | A/C | snv | 1.4E-05 | 2 | ||
rs148499544 | 0.882 | 0.160 | 4 | 67740670 | missense variant | A/C | snv | 8.0E-06 | 5.6E-05 | 1 | |
rs886907903 | 1.000 | 0.040 | 4 | 67754226 | missense variant | A/C | snv | 1 | |||
rs727505370 | 1.000 | 0.040 | 8 | 38414840 | missense variant | A/G | snv | 2 | |||
rs727505377 | 1.000 | 0.040 | 8 | 38414001 | missense variant | A/G | snv | 1 | |||
rs104893840 | 1.000 | 0.040 | 4 | 67753832 | missense variant | A/T | snv | 1 | |||
rs104893841 | 1.000 | 0.040 | 4 | 67740526 | stop gained | A/T | snv | 1 | |||
rs104893843 | 0.925 | 0.040 | 4 | 67754306 | missense variant | A/T | snv | 1.3E-04 | 6.3E-05 | 1 | |
rs727505371 | 1.000 | 0.040 | 8 | 38421840 | frameshift variant | AG/- | delins | 4.0E-06 | 2 | ||
rs886039799 | 0.763 | 0.320 | 7 | 33273896 | frameshift variant | C/- | del | 17 | |||
rs374434303 | 0.882 | 0.200 | 19 | 7561509 | missense variant | C/A;T | snv | 3.8E-05 | 4 | ||
rs74452732 | 0.851 | 0.160 | 4 | 67753825 | missense variant | C/A;T | snv | 4.0E-06 | 1 | ||
rs1057518936 | 0.925 | 0.120 | 19 | 7541025 | missense variant | C/G | snv | 3 | |||
rs727505376 | 0.925 | 0.160 | 8 | 38414279 | missense variant | C/G;T | snv | 2 | |||
rs515726224 | 0.925 | 0.320 | 8 | 38417962 | missense variant | C/T | snv | 3 | |||
rs606231407 | 1.000 | 0.040 | 10 | 101770613 | missense variant | C/T | snv | 1.6E-05 | 2 | ||
rs730882248 | 0.925 | 0.160 | 7 | 5711761 | splice region variant | C/T | snv | 2 | |||
rs104893837 | 0.807 | 0.160 | 4 | 67740682 | missense variant | C/T | snv | 1.8E-03 | 1.3E-03 | 1 | |
rs104893842 | 0.925 | 0.040 | 4 | 67753920 | missense variant | C/T | snv | 1.4E-04 | 2.1E-04 | 1 | |
rs104893844 | 0.882 | 0.160 | 4 | 67754068 | missense variant | C/T | snv | 3.6E-05 | 7.0E-06 | 1 | |
rs104894701 | 0.925 | 0.040 | 19 | 920542 | stop gained | C/T | snv | 7.0E-06 | 1 | ||
rs121909640 | 0.925 | 0.160 | 8 | 38429898 | missense variant | C/T | snv | 1 | |||
rs144292455 | 0.882 | 0.040 | 4 | 103656258 | stop gained | C/T | snv | 3.1E-04 | 3.8E-04 | 1 | |
rs727505375 | 1.000 | 0.040 | 4 | 103658329 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs781328162 | 0.925 | 0.160 | 8 | 38413714 | missense variant | C/T | snv | 2.0E-05 | 3.5E-05 | 1 |