Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs34612342 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 32 | |
rs36053993 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 31 | |
rs3219489 | 0.672 | 0.360 | 1 | 45331833 | missense variant | C/A;G | snv | 0.29 | 0.27 | 24 | |
rs369410616 | 0.752 | 0.280 | 1 | 45329400 | missense variant | C/T | snv | 2.0E-05 | 2.8E-05 | 10 | |
rs529008617 | 0.851 | 0.160 | 1 | 45331529 | missense variant | G/A | snv | 7.2E-05 | 2.8E-05 | 7 | |
rs1057517457 | 0.851 | 0.120 | 1 | 45332804 | frameshift variant | GCCAGCCCAG/- | delins | 7.0E-06 | 6 | ||
rs143353451 | 0.851 | 0.120 | 1 | 45332794 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 1.2E-05 | 5 | ||
rs587780088 | 0.882 | 0.120 | 1 | 45334493 | stop gained | G/A;C | snv | 8.0E-06; 4.0E-06 | 5 | ||
rs587781628 | 0.882 | 0.120 | 1 | 45331558 | splice acceptor variant | T/C | snv | 2.4E-05 | 7.0E-06 | 5 | |
rs765123255 | 0.851 | 0.120 | 1 | 45333436 | missense variant | G/A | snv | 4.0E-05 | 4.2E-05 | 5 | |
rs587778536 | 0.882 | 0.120 | 1 | 45331700 | frameshift variant | G/- | delins | 6.4E-05 | 4.2E-05 | 4 | |
rs587780078 | 0.882 | 0.120 | 1 | 45331514 | frameshift variant | -/CC | delins | 1.6E-04 | 2.7E-04 | 4 | |
rs754155145 | 0.925 | 0.120 | 1 | 45332773 | missense variant | C/A;T | snv | 4.0E-06 | 4 | ||
rs587782885 | 0.925 | 0.120 | 1 | 45332440 | stop gained | G/A;C | snv | 4.0E-06 | 3 | ||
rs587783057 | 0.925 | 0.120 | 1 | 45331676 | stop gained | G/A | snv | 1.2E-05 | 3 | ||
rs763693540 | 1.000 | 0.080 | 1 | 45333573 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 3 | ||
rs1374712964 | 1.000 | 0.080 | 1 | 45332028 | missense variant | T/C | snv | 2 | |||
rs587782041 | 0.925 | 0.080 | 1 | 45333297 | missense variant | G/A;T | snv | 6.0E-05 | 7.0E-06 | 2 | |
rs771683103 | 0.925 | 0.120 | 1 | 45332048 | synonymous variant | C/G;T | snv | 1.2E-05; 1.2E-05 | 2 | ||
rs863224699 | 1.000 | 0.080 | 1 | 45332393 | splice region variant | G/A;C | snv | 1 |