Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057518761 | 10 | 100750693 | splice region variant | TACTACGAGACCGG/- | delins | 1 | |||||
rs1057518856 | 0.882 | 0.240 | 16 | 2102397 | missense variant | A/T | snv | 5 | |||
rs1057518952 | 1.000 | 0.080 | 6 | 52024728 | frameshift variant | -/C | delins | 3 | |||
rs1213930919 | 0.882 | 0.120 | 2 | 178577785 | stop gained | G/A | snv | 9 | |||
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs140511594 | 0.742 | 0.360 | 2 | 165941111 | missense variant | G/A | snv | 1.3E-04 | 1.1E-04 | 13 | |
rs1458766475 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 41 | ||
rs1555202697 | 0.882 | 0.160 | 12 | 76347446 | missense variant | C/T | snv | 5 | |||
rs1555932766 | 0.882 | 0.080 | X | 41210540 | stop gained | C/T | snv | 9 | |||
rs182089527 | 0.925 | 0.120 | 2 | 182241913 | start lost | A/C | snv | 1.5E-03 | 5.3E-04 | 3 | |
rs199469465 | 0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv | 50 | |||
rs201893408 | 0.695 | 0.480 | 8 | 93795970 | missense variant | T/A;C | snv | 8.0E-06; 1.5E-04 | 28 | ||
rs5361 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 47 | |
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs752362727 | 0.716 | 0.480 | 8 | 93786255 | missense variant | C/T | snv | 2.0E-05 | 22 | ||
rs786204707 | 0.925 | 0.200 | 6 | 52043636 | stop gained | C/T | snv | 4 | |||
rs886041114 | 1.000 | 0.120 | 4 | 88046642 | missense variant | G/A;T | snv | 4.0E-06 | 2 |