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 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 119 | ||
rs1800896 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 113 | ||
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 | ||
rs121913237 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 50 | ||
rs1800890 | 0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 | 29 | ||
rs6676671 | 0.882 | 0.160 | 1 | 206779403 | intron variant | T/A | snv | 0.32 | 4 | ||
rs10494879 | 0.925 | 0.120 | 1 | 206778859 | intron variant | C/A;G | snv | 0.36 | 3 | ||
rs1351687973 | 0.925 | 0.120 | 1 | 3731497 | missense variant | G/A | snv | 1.6E-05 | 3 | ||
rs2466571 | 0.925 | 0.120 | 1 | 207766701 | intron variant | G/T | snv | 0.46 | 3 | ||
rs535311760 | 0.925 | 0.120 | 1 | 3730979 | missense variant | G/A | snv | 1.2E-05; 8.2E-06 | 3 | ||
rs1057519781 | 0.807 | 0.160 | 2 | 29209816 | missense variant | C/G | snv | 9 | |||
rs10190751 | 0.882 | 0.120 | 2 | 201141373 | splice acceptor variant | G/A | snv | 0.18 | 0.26 | 4 | |
rs387907272 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 73 | |
rs995922697 | 0.724 | 0.560 | 3 | 49357413 | missense variant | A/G | snv | 4.1E-06 | 15 | ||
rs6773854 | 1.000 | 0.120 | 3 | 187931631 | downstream gene variant | T/C | snv | 0.23 | 2 | ||
rs4073 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 64 | ||
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs121913482 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 45 | |||
rs121913105 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 30 | |||
rs121913485 | 0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv | 18 | |||
rs2227307 | 0.851 | 0.240 | 4 | 73740952 | intron variant | T/G | snv | 0.45 | 6 | ||
rs1257715362 | 0.925 | 0.120 | 4 | 85995065 | missense variant | A/G | snv | 7.0E-06 | 3 |