Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs727505372 | 0.925 | 0.040 | 12 | 57013359 | missense variant | G/T | snv | 3 | |||
rs199538589 | 0.925 | 0.040 | 2 | 128268254 | missense variant | G/A | snv | 1.9E-03 | 9.3E-04 | 2 | |
rs28939719 | 0.882 | 0.040 | 19 | 919563 | missense variant | T/C | snv | 2 | |||
rs376239580 | 0.925 | 0.040 | 20 | 5302632 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 2 | |
rs606231407 | 1.000 | 0.040 | 10 | 101770613 | missense variant | C/T | snv | 1.6E-05 | 2 | ||
rs727505367 | 1.000 | 0.040 | 4 | 67753986 | missense variant | A/C | snv | 1.4E-05 | 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 | ||
rs727505374 | 1.000 | 0.040 | X | 8539744 | stop gained | G/A | snv | 2 | |||
rs104893838 | 1.000 | 0.040 | 4 | 67753950 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 1.6E-05 | 1 | ||
rs104893839 | 1.000 | 0.040 | 4 | 67744659 | missense variant | G/T | 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 | |||
rs104893842 | 0.925 | 0.040 | 4 | 67753920 | missense variant | C/T | snv | 1.4E-04 | 2.1E-04 | 1 | |
rs104893843 | 0.925 | 0.040 | 4 | 67754306 | missense variant | A/T | snv | 1.3E-04 | 6.3E-05 | 1 | |
rs104893847 | 1.000 | 0.040 | 4 | 67740508 | missense variant | G/A | snv | 1 | |||
rs104894701 | 0.925 | 0.040 | 19 | 920542 | stop gained | C/T | snv | 7.0E-06 | 1 | ||
rs104894702 | 0.925 | 0.040 | 19 | 920746 | stop lost | T/A;C | snv | 6.8E-05 | 1 | ||
rs121918340 | 0.925 | 0.040 | 9 | 137449656 | missense variant | T/C | snv | 1 | |||
rs1391808526 | 1.000 | 0.040 | 4 | 67754089 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs144292455 | 0.882 | 0.040 | 4 | 103656258 | stop gained | C/T | snv | 3.1E-04 | 3.8E-04 | 1 | |
rs144900788 | 1.000 | 0.040 | 4 | 67753900 | missense variant | G/A;T | snv | 1.3E-03 | 1 | ||
rs281865427 | 1.000 | 0.040 | 4 | 67754305 | missense variant | GA/TT | mnv | 1 | |||
rs28933074 | 1.000 | 0.040 | 4 | 67740616 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs515726219 | 1.000 | 0.040 | 4 | 67754242 | splice donor variant | T/C | snv | 3.6E-05 | 7.0E-06 | 1 |