Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs1323151304 | 0.925 | 0.080 | 12 | 132643933 | frameshift variant | TA/- | delins | 2 | |||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs2279744 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 47 | ||
rs2282679 | 0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 | 36 | ||
rs7656411 | 0.790 | 0.320 | 4 | 153706503 | downstream gene variant | T/G | snv | 0.35 | 8 | ||
rs4143094 | 0.752 | 0.240 | 10 | 8047173 | intron variant | T/G | snv | 0.70 | 4 | ||
rs7931342 | 0.689 | 0.360 | 11 | 69227030 | intergenic variant | T/G | snv | 0.58 | 4 | ||
rs352144 | 0.925 | 0.080 | 3 | 52227452 | intron variant | T/G | snv | 3.7E-02 | 3 | ||
rs4813802 | 0.776 | 0.080 | 20 | 6718948 | regulatory region variant | T/G | snv | 0.28 | 2 | ||
rs3824999 | 0.790 | 0.080 | 11 | 74634505 | intron variant | T/G | snv | 0.40 | 1 | ||
rs12778366 | 0.724 | 0.480 | 10 | 67883321 | upstream gene variant | T/C;G | snv | 13 | |||
rs773442580 | 0.851 | 0.080 | 4 | 109913367 | missense variant | T/C;G | snv | 4.0E-06 | 7 | ||
rs3219145 | 0.882 | 0.120 | 1 | 226363128 | missense variant | T/C;G | snv | 1.2E-02; 4.0E-06 | 4 | ||
rs587782513 | 0.925 | 0.080 | 7 | 5992023 | missense variant | T/C;G | snv | 4.0E-06 | 2 | ||
rs680 | 0.925 | 0.080 | 11 | 2132404 | 3 prime UTR variant | T/C;G | snv | 0.78 | 2 | ||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs2234693 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 77 | ||
rs3804099 | 0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 | 40 | |
rs3804100 | 0.633 | 0.720 | 4 | 153704257 | synonymous variant | T/C | snv | 9.0E-02 | 6.7E-02 | 36 | |
rs752021744 | 0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 | 29 | ||
rs34612342 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 24 | |
rs187115 | 0.695 | 0.320 | 11 | 35154612 | intron variant | T/C | snv | 0.37 | 22 | ||
rs9651118 | 0.683 | 0.480 | 1 | 11802157 | intron variant | T/C | snv | 0.18 | 20 | ||
rs352139 | 0.732 | 0.320 | 3 | 52224356 | intron variant | T/C | snv | 0.51 | 0.54 | 18 |