Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1163276899 | 1.000 | 0.040 | 3 | 53673125 | missense variant | G/A | snv | 2 | |||
rs121917893 | 0.807 | 0.160 | X | 71167508 | missense variant | C/T | snv | 10 | |||
rs1275980031 | 1.000 | 0.040 | 7 | 103540259 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs1350135 | 1.000 | 0.040 | 7 | 114602621 | intron variant | C/A;G;T | snv | 2 | |||
rs1799793 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 72 | ||
rs1801291 | 1.000 | 0.040 | X | 43744144 | synonymous variant | T/C | snv | 2 | |||
rs199473391 | 1.000 | 0.040 | 12 | 2607117 | stop gained | G/A;T | snv | 2 | |||
rs28934908 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 23 | ||
rs3027407 | 0.925 | 0.040 | X | 43745594 | 3 prime UTR variant | A/G | snv | 3 | |||
rs3747333 | 0.925 | 0.040 | X | 5893491 | missense variant | G/A;C;T | snv | 7.6E-03 | 3 | ||
rs3747334 | 0.925 | 0.040 | X | 5893489 | synonymous variant | G/A;C;T | snv | 1.2E-05; 6.7E-03 | 3 | ||
rs397514679 | 0.790 | 0.200 | X | 47574321 | stop gained | G/A | snv | 9 | |||
rs4307059 | 0.882 | 0.080 | 5 | 25967594 | intron variant | T/A;C | snv | 5 | |||
rs4541 | 1.000 | 0.040 | 8 | 142875277 | missense variant | G/A;T | snv | 7.8E-02; 2.0E-05 | 2 | ||
rs587777457 | 0.925 | 0.200 | X | 43731695 | missense variant | G/T | snv | 3 | |||
rs6323 | 0.807 | 0.040 | X | 43731789 | synonymous variant | G/T | snv | 0.65 | 7 | ||
rs750257282 | 1.000 | 0.040 | 11 | 3038127 | missense variant | C/G;T | snv | 3.2E-05 | 3 | ||
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs768913131 | 0.925 | 0.040 | 2 | 50552821 | missense variant | G/A | snv | 3 | |||
rs779545541 | 0.882 | 0.120 | 14 | 66965293 | missense variant | C/T | snv | 4.0E-06 | 5 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs893924483 | 0.716 | 0.280 | 11 | 27658285 | missense variant | C/A;T | snv | 4.0E-06 | 1.4E-05 | 23 | |
rs201551401 | 0.925 | 0.040 | 7 | 124746694 | missense variant | C/T | snv | 6.4E-05 | 1.4E-05 | 3 | |
rs141441277 | 0.882 | 0.120 | X | 100689933 | missense variant | G/A | snv | 5.6E-04 | 3.8E-04 | 5 | |
rs121918799 | 0.752 | 0.120 | 2 | 166015636 | missense variant | G/C | snv | 1.7E-03 | 1.6E-03 | 14 |