Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104893836 | 0.790 | 0.160 | 4 | 67754019 | missense variant | T/C | snv | 2.8E-03 | 2.3E-03 | 7 | |
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 | ||
rs104893843 | 0.925 | 0.040 | 4 | 67754306 | missense variant | A/T | snv | 1.3E-04 | 6.3E-05 | 2 | |
rs727505367 | 1.000 | 0.040 | 4 | 67753986 | missense variant | A/C | snv | 1.4E-05 | 2 | ||
rs104893847 | 1.000 | 0.040 | 4 | 67740508 | missense variant | G/A | snv | 1 | |||
rs281865427 | 1.000 | 0.040 | 4 | 67754305 | missense variant | GA/TT | mnv | 1 | |||
rs515726219 | 1.000 | 0.040 | 4 | 67754242 | splice donor variant | T/C | snv | 3.6E-05 | 7.0E-06 | 1 | |
rs797044452 | 1.000 | 0.040 | 4 | 67744788 | splice acceptor variant | C/T | snv | 1 | |||
rs886907903 | 1.000 | 0.040 | 4 | 67754226 | missense variant | A/C | snv | 1 | |||
rs144292455 | 0.882 | 0.040 | 4 | 103656258 | stop gained | C/T | snv | 3.1E-04 | 3.8E-04 | 3 | |
rs727505375 | 1.000 | 0.040 | 4 | 103658329 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs769742678 | 1.000 | 0.040 | 4 | 103719502 | synonymous variant | C/G | snv | 4.0E-06 | 1 | ||
rs727505372 | 0.925 | 0.040 | 12 | 57013359 | missense variant | G/T | snv | 3 | |||
rs1396024828 | 1.000 | 0.040 | 12 | 57013615 | synonymous variant | C/A | snv | 1 | |||
rs1406099149 | 1.000 | 0.040 | 12 | 57013617 | synonymous variant | G/A | snv | 1 | |||
rs1472692670 | 1.000 | 0.040 | 4 | 69849453 | missense variant | T/A;C | snv | 4.0E-06 | 1 | ||
rs730882248 | 0.925 | 0.160 | 7 | 5711761 | splice region variant | C/T | snv | 2 | |||
rs764654861 | 1.000 | 0.040 | 11 | 86951995 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs376239580 | 0.925 | 0.040 | 20 | 5302632 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 2 | |
rs146544539 | 1.000 | 0.040 | 20 | 5302386 | missense variant | C/T | snv | 1.0E-04 | 2.8E-05 | 1 | |
rs774883653 | 1.000 | 0.040 | 20 | 5302542 | missense variant | A/G | snv | 4.8E-05 | 4.2E-05 | 1 | |
rs138249161 | 0.827 | 0.240 | 12 | 106432421 | missense variant | T/A | snv | 2.7E-04 | 3.0E-04 | 8 | |
rs774526181 | 0.882 | 0.200 | 12 | 106427360 | splice donor variant | T/C | snv | 8.0E-06 | 2.1E-05 | 3 | |
rs374434303 | 0.882 | 0.200 | 19 | 7561509 | missense variant | C/A;T | snv | 3.8E-05 | 4 |