Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4444235 | 0.701 | 0.240 | 14 | 53944201 | downstream gene variant | T/C | snv | 0.43 | 23 | ||
rs1321311 | 0.742 | 0.160 | 6 | 36655123 | regulatory region variant | C/A | snv | 0.28 | 15 | ||
rs31563 | 0.851 | 0.160 | 5 | 135899917 | intron variant | C/A;T | snv | 5 | |||
rs312986 | 0.925 | 0.080 | 18 | 1898710 | intron variant | A/G;T | snv | 3 | |||
rs10953615 | 1.000 | 0.080 | 7 | 109512654 | intergenic variant | A/G | snv | 0.29 | 1 | ||
rs13294589 | 1.000 | 0.080 | 9 | 26694890 | intergenic variant | A/G | snv | 0.20 | 1 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs1800682 | 0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 | 32 | ||
rs11125529 | 0.882 | 0.280 | 2 | 54248729 | intron variant | C/A;T | snv | 3 | |||
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 83 | ||
rs698 | 0.724 | 0.240 | 4 | 99339632 | missense variant | T/A;C | snv | 0.35 | 20 | ||
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs201745983 | 0.752 | 0.200 | 12 | 111783219 | missense variant | G/A | snv | 6.8E-05 | 7.7E-05 | 14 | |
rs1801155 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 42 | |
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs1130409 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 72 | ||
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 38 | ||
rs1047972 | 0.716 | 0.240 | 20 | 56386407 | missense variant | T/C | snv | 0.85 | 0.84 | 19 | |
rs1800477 | 0.763 | 0.480 | 18 | 63318540 | missense variant | C/T | snv | 1.8E-02 | 4.9E-03 | 12 | |
rs873601 | 0.677 | 0.360 | 13 | 102875987 | 3 prime UTR variant | G/A | snv | 0.59 | 25 | ||
rs2296147 | 0.695 | 0.280 | 13 | 102846025 | 5 prime UTR variant | T/C | snv | 0.38 | 21 | ||
rs11473 | 0.882 | 0.080 | 19 | 582982 | 3 prime UTR variant | C/A;T | snv | 4 | |||
rs6682925 | 0.776 | 0.160 | 1 | 67165579 | intron variant | C/T | snv | 0.47 | 11 | ||
rs1057519918 | 0.851 | 0.200 | 8 | 127738390 | missense variant | C/T | snv | 5 | |||
rs750664148 | 0.851 | 0.200 | 8 | 127738434 | missense variant | A/C;G | snv | 5 |