Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs886039799 | 0.763 | 0.320 | 7 | 33273896 | frameshift variant | C/- | del | 17 | |||
rs121909641 | 0.763 | 0.520 | 8 | 38419720 | missense variant | G/A | snv | 9 | |||
rs138249161 | 0.827 | 0.240 | 12 | 106432421 | missense variant | T/A | snv | 2.7E-04 | 3.0E-04 | 8 | |
rs104893836 | 0.790 | 0.160 | 4 | 67754019 | missense variant | T/C | snv | 2.8E-03 | 2.3E-03 | 7 | |
rs104893837 | 0.807 | 0.160 | 4 | 67740682 | missense variant | C/T | snv | 1.8E-03 | 1.3E-03 | 6 | |
rs374434303 | 0.882 | 0.200 | 19 | 7561509 | missense variant | C/A;T | snv | 3.8E-05 | 4 | ||
rs104893844 | 0.882 | 0.160 | 4 | 67754068 | missense variant | C/T | snv | 3.6E-05 | 7.0E-06 | 4 | |
rs74452732 | 0.851 | 0.160 | 4 | 67753825 | missense variant | C/A;T | snv | 4.0E-06 | 4 | ||
rs1363196459 | 0.882 | 0.040 | 4 | 147486001 | missense variant | A/G | snv | 4.0E-06 | 3 | ||
rs876661330 | 0.882 | 0.160 | 10 | 101771522 | stop gained | G/A | snv | 4.0E-06 | 3 | ||
rs121909628 | 0.925 | 0.160 | 8 | 38414892 | stop gained | G/A;C | snv | 3 | |||
rs515726224 | 0.925 | 0.320 | 8 | 38417962 | missense variant | C/T | snv | 3 | |||
rs727505369 | 0.925 | 0.160 | 8 | 38424624 | missense variant | T/C | snv | 3 | |||
rs727505373 | 0.925 | 0.160 | 8 | 38429744 | missense variant | T/C | snv | 3 | |||
rs148499544 | 0.882 | 0.160 | 4 | 67740670 | missense variant | A/C | snv | 8.0E-06 | 5.6E-05 | 3 | |
rs28939719 | 0.882 | 0.040 | 19 | 919563 | missense variant | T/C | snv | 3 | |||
rs970697573 | 0.882 | 0.040 | 19 | 19626965 | missense variant | C/T | snv | 3 | |||
rs1057518936 | 0.925 | 0.120 | 19 | 7541025 | missense variant | C/G | snv | 3 | |||
rs774526181 | 0.882 | 0.200 | 12 | 106427360 | splice donor variant | T/C | snv | 8.0E-06 | 2.1E-05 | 3 | |
rs727505372 | 0.925 | 0.040 | 12 | 57013359 | missense variant | G/T | snv | 3 | |||
rs144292455 | 0.882 | 0.040 | 4 | 103656258 | stop gained | C/T | snv | 3.1E-04 | 3.8E-04 | 3 | |
rs727505374 | 1.000 | 0.040 | X | 8539744 | stop gained | G/A | snv | 2 | |||
rs121909640 | 0.925 | 0.160 | 8 | 38429898 | missense variant | C/T | snv | 2 | |||
rs727505370 | 1.000 | 0.040 | 8 | 38414840 | missense variant | A/G | snv | 2 | |||
rs727505371 | 1.000 | 0.040 | 8 | 38421840 | frameshift variant | AG/- | delins | 4.0E-06 | 2 |