Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs199538589 | 0.925 | 0.040 | 2 | 128268254 | missense variant | G/A | snv | 1.9E-03 | 9.3E-04 | 2 | |
rs753272921 | 1.000 | 0.040 | 2 | 42763741 | frameshift variant | G/- | delins | 4.0E-06 | 1 | ||
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 | |
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 | ||
rs144292455 | 0.882 | 0.040 | 4 | 103656258 | stop gained | C/T | snv | 3.1E-04 | 3.8E-04 | 3 | |
rs148499544 | 0.882 | 0.160 | 4 | 67740670 | missense variant | A/C | snv | 8.0E-06 | 5.6E-05 | 3 | |
rs104893842 | 0.925 | 0.040 | 4 | 67753920 | missense variant | C/T | snv | 1.4E-04 | 2.1E-04 | 2 | |
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 | ||
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 | |||
rs104893847 | 1.000 | 0.040 | 4 | 67740508 | missense variant | G/A | snv | 1 | |||
rs1224900173 | 1.000 | 0.040 | 4 | 147519933 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs1391808526 | 1.000 | 0.040 | 4 | 67754089 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs144900788 | 1.000 | 0.040 | 4 | 67753900 | missense variant | G/A;T | snv | 1.3E-03 | 1 | ||
rs1472692670 | 1.000 | 0.040 | 4 | 69849453 | missense variant | T/A;C | snv | 4.0E-06 | 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 | |
rs727505375 | 1.000 | 0.040 | 4 | 103658329 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 | 1 |