Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs34637584 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 78 | |
rs587784347 | 0.742 | 0.280 | 22 | 38113561 | missense variant | G/A | snv | 8.0E-06 | 38 | ||
rs1564045331 | 0.716 | 0.320 | 9 | 97687208 | inframe deletion | ATTCTT/- | delins | 35 | |||
rs778543124 | 0.716 | 0.320 | 9 | 97675476 | frameshift variant | AGTCTTACGGTACA/- | delins | 6.8E-05 | 6.3E-05 | 35 | |
rs63750687 | 0.752 | 0.200 | 14 | 73217137 | missense variant | C/A;G;T | snv | 33 | |||
rs151344517 | 0.742 | 0.320 | 18 | 12337505 | missense variant | C/T | snv | 31 | |||
rs1555731819 | 0.807 | 0.200 | 19 | 35729980 | missense variant | G/T | snv | 26 | |||
rs1990622 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 16 | ||
rs4606 | 0.752 | 0.120 | 1 | 192812042 | 3 prime UTR variant | C/G;T | snv | 16 | |||
rs3173615 | 0.807 | 0.200 | 7 | 12229791 | missense variant | C/A;G | snv | 0.49 | 12 | ||
rs63750522 | 0.827 | 0.120 | 14 | 73173644 | missense variant | G/A;C | snv | 8 | |||
rs363371 | 0.882 | 0.120 | 10 | 117226885 | TF binding site variant | G/A | snv | 0.19 | 5 | ||
rs11866328 | 0.925 | 0.120 | 16 | 9768699 | intron variant | G/T | snv | 0.38 | 3 | ||
rs200660418 | 1.000 | 0.040 | 12 | 40310449 | missense variant | C/A;G;T | snv | 3 | |||
rs10772715 | 12 | 13885069 | intron variant | G/A | snv | 0.39 | 2 | ||||
rs2192970 | 12 | 13683379 | intron variant | G/A | snv | 0.15 | 2 |