Source: BEFREE
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs3219489 | 0.672 | 0.360 | 1 | 45331833 | missense variant | C/A;G | snv | 0.29 | 0.27 | 24 | |
| rs34612342 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 24 | |
| rs36053993 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 24 | |
| rs369410616 | 0.752 | 0.280 | 1 | 45329400 | missense variant | C/T | snv | 2.0E-05 | 2.8E-05 | 10 | |
| rs1057517457 | 0.851 | 0.120 | 1 | 45332804 | frameshift variant | GCCAGCCCAG/- | delins | 7.0E-06 | 4 | ||
| rs529008617 | 0.851 | 0.160 | 1 | 45331529 | missense variant | G/A | snv | 7.2E-05 | 2.8E-05 | 3 | |
| rs754155145 | 0.925 | 0.120 | 1 | 45332773 | missense variant | C/A;T | snv | 4.0E-06 | 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 | |||
| rs143353451 | 0.851 | 0.120 | 1 | 45332794 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 1.2E-05 | 2 | ||
| rs587782041 | 0.925 | 0.080 | 1 | 45333297 | missense variant | G/A;T | snv | 6.0E-05 | 7.0E-06 | 2 | |
| rs765123255 | 0.851 | 0.120 | 1 | 45333436 | missense variant | G/A | snv | 4.0E-05 | 4.2E-05 | 2 | |
| rs771683103 | 0.925 | 0.120 | 1 | 45332048 | synonymous variant | C/G;T | snv | 1.2E-05; 1.2E-05 | 2 | ||
| rs587780078 | 0.882 | 0.120 | 1 | 45331514 | frameshift variant | -/CC | delins | 1.6E-04 | 2.7E-04 | 1 | |
| rs863224699 | 1.000 | 0.080 | 1 | 45332393 | splice region variant | G/A;C | snv | 1 |