Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs486907 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 32 | |
rs121434265 | 0.925 | 0.080 | 1 | 193125142 | stop gained | C/G | snv | 3 | |||
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs1801278 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 38 | ||
rs1418810723 | 0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 | 9 | ||
rs267607911 | 0.851 | 0.200 | 2 | 47403192 | start lost | A/C;G;T | snv | 5.1E-05; 1.4E-05 | 8 | ||
rs768824654 | 1.000 | 0.120 | 2 | 47403390 | start lost | A/G | snv | 7.0E-06 | 6 | ||
rs6886 | 0.925 | 0.160 | 2 | 85394936 | missense variant | T/A;C | snv | 0.58 | 4 | ||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 101 | ||
rs104886003 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 71 | ||
rs121913273 | 0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv | 44 | |||
rs3856806 | 0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 | 41 | |
rs752742313 | 0.637 | 0.320 | 3 | 138655502 | missense variant | C/T | snv | 1.2E-05 | 36 | ||
rs121913400 | 0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv | 26 | |||
rs121913403 | 0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv | 23 | |||
rs121913412 | 0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv | 19 | |||
rs577715207 | 0.827 | 0.160 | 3 | 189886413 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 7.0E-06 | 8 | |
rs587778967 | 0.925 | 0.200 | 3 | 36993548 | start lost | A/C;G | snv | 8 | |||
rs1245554802 | 0.851 | 0.120 | 3 | 9765892 | splice acceptor variant | T/C | snv | 4.0E-06 | 5 | ||
rs771306418 | 0.851 | 0.120 | 3 | 9765885 | splice acceptor variant | -/C | delins | 5 | |||
rs773647920 | 1.000 | 0.120 | 3 | 37001037 | start lost | A/G | snv | 2.4E-04 | 3.5E-05 | 5 |