Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11206510 | 0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv | 16 | |||
rs3764261 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 26 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs72653706 | 0.695 | 0.480 | 16 | 16163078 | stop gained | G/A | snv | 1.4E-03 | 1.2E-03 | 32 | |
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs4363 | 1.000 | 0.080 | 17 | 63497131 | splice region variant | G/A;C | snv | 0.52 | 2 | ||
rs4961 | 0.683 | 0.400 | 4 | 2904980 | missense variant | G/A;T | snv | 1.2E-05; 0.20 | 27 | ||
rs1501299 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 52 | |||
rs2241766 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 48 | ||
rs758801521 | 0.882 | 0.160 | 8 | 26770618 | missense variant | A/G | snv | 4.0E-06 | 4 | ||
rs1012841819 | 0.882 | 0.160 | 2 | 96115728 | missense variant | G/A | snv | 4.0E-06 | 4 | ||
rs1042713 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 63 | |
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs1800888 | 0.695 | 0.400 | 5 | 148827322 | missense variant | C/T | snv | 9.1E-03 | 9.1E-03 | 23 | |
rs4994 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 65 | |
rs6903956 | 0.763 | 0.160 | 6 | 11774350 | intron variant | A/G | snv | 0.65 | 10 | ||
rs1177506410 | 0.776 | 0.240 | 1 | 230706148 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 12 | |
rs1275805226 | 0.776 | 0.240 | 1 | 230706148 | frameshift variant | G/- | del | 7.0E-06 | 12 | ||
rs2067853 | 0.851 | 0.160 | 1 | 230702512 | downstream gene variant | G/A | snv | 0.25 | 5 | ||
rs3789679 | 0.925 | 0.120 | 1 | 230713948 | intron variant | G/A;T | snv | 4 | |||
rs4762 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 35 | |
rs5051 | 0.882 | 0.160 | 1 | 230714126 | intron variant | C/A;G;T | snv | 5 | |||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs5182 | 0.742 | 0.160 | 3 | 148741608 | synonymous variant | C/T | snv | 0.49 | 0.41 | 16 | |
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 |