Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121912691 | 0.925 | 0.120 | 2 | 44312653 | missense variant | T/A;C | snv | 9.2E-05; 2.5E-03 | 2 | ||
rs369641941 | 0.925 | 0.120 | 2 | 44281423 | missense variant | C/G;T | snv | 9.1E-05 | 2 | ||
rs121908479 | 0.925 | 0.120 | 19 | 32862557 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs121912695 | 1.000 | 0.120 | 2 | 44320536 | missense variant | C/G;T | snv | 1.2E-05 | 1 | ||
rs121912696 | 1.000 | 0.120 | 2 | 44320424 | missense variant | C/A;T | snv | 1.6E-05; 4.0E-06 | 1 | ||
rs1279289214 | 1.000 | 0.120 | 2 | 44320524 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
rs141944551 | 1.000 | 0.120 | 2 | 44320380 | missense variant | G/A | snv | 8.0E-05 | 9.1E-05 | 1 | |
rs368796166 | 1.000 | 0.120 | 2 | 44320221 | stop gained | C/A;G;T | snv | 2.0E-05; 3.6E-05 | 1 | ||
rs376639206 | 1.000 | 0.120 | 2 | 44320283 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 1 | |
rs775827496 | 1.000 | 0.120 | 2 | 44320330 | frameshift variant | A/- | delins | 2.4E-05 | 4.2E-05 | 1 | |
rs1032513393 | 1.000 | 0.120 | 2 | 44313856 | missense variant | C/G | snv | 7.0E-06 | 1 | ||
rs121912694 | 1.000 | 0.120 | 2 | 44280827 | missense variant | G/A;T | snv | 1.6E-05; 8.0E-06 | 1 | ||
rs121912697 | 1.000 | 0.120 | 2 | 44301076 | missense variant | G/A | snv | 3.6E-05 | 7.0E-06 | 1 | |
rs1233216697 | 1.000 | 0.120 | 2 | 44280833 | missense variant | T/C | snv | 7.0E-06 | 1 | ||
rs1269139353 | 1.000 | 0.120 | 2 | 44275903 | missense variant | T/G | snv | 8.0E-06 | 1 | ||
rs1297802490 | 1.000 | 0.120 | 2 | 44304198 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs139251285 | 1.000 | 0.120 | 2 | 44312619 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 1 | |
rs140317484 | 1.000 | 0.120 | 2 | 44280851 | missense variant | C/A;T | snv | 8.0E-06; 2.7E-03 | 1 | ||
rs144162964 | 1.000 | 0.120 | 2 | 44312634 | missense variant | T/C | snv | 8.2E-04 | 4.3E-04 | 1 | |
rs1453871309 | 1.000 | 0.120 | 2 | 44275801 | missense variant | T/C | snv | 4.0E-05 | 3.5E-05 | 1 | |
rs146630359 | 1.000 | 0.120 | 2 | 44275766 | synonymous variant | T/A | snv | 2.6E-03 | 2.6E-03 | 1 | |
rs1553344107 | 1.000 | 0.120 | 2 | 44301059 | frameshift variant | -/ATGCACGACATTGTCC | delins | 1 | |||
rs1558450604 | 1.000 | 0.120 | 2 | 44275967 | splice donor variant | T/G | snv | 1 | |||
rs187962930 | 1.000 | 0.120 | 2 | 44312587 | missense variant | T/C | snv | 2.0E-05 | 2.8E-05 | 1 | |
rs200287661 | 1.000 | 0.120 | 2 | 44301012 | missense variant | A/C;G | snv | 8.0E-06 | 2.1E-05 | 1 |