Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1490867890 | 0.882 | 0.080 | 1 | 150579475 | missense variant | G/A;C | snv | 3 | |||
rs212528 | 0.925 | 0.040 | 1 | 21259168 | intron variant | T/C | snv | 0.12 | 3 | ||
rs4916251 | 0.882 | 0.040 | 1 | 172377256 | intron variant | T/A | snv | 0.70 | 3 | ||
rs6666258 | 0.882 | 0.080 | 1 | 154841792 | intron variant | G/C | snv | 0.30 | 3 | ||
rs746481995 | 0.882 | 0.120 | 1 | 209707123 | missense variant | T/C | snv | 4.0E-06 | 3 | ||
rs750805885 | 0.882 | 0.080 | 1 | 150579475 | frameshift variant | -/C | delins | 4.7E-06 | 3 | ||
rs750996166 | 0.925 | 0.040 | 1 | 161041409 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs915014 | 0.925 | 0.040 | 1 | 11789412 | missense variant | T/C | snv | 2 | |||
rs747885829 | 1.000 | 0.040 | 1 | 247423957 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 1 | |
rs2943641 | 0.763 | 0.160 | 2 | 226229029 | intergenic variant | T/C | snv | 0.67 | 18 | ||
rs2943634 | 0.763 | 0.200 | 2 | 226203364 | intergenic variant | A/C;G | snv | 15 | |||
rs549858786 | 0.790 | 0.320 | 2 | 112836807 | 5 prime UTR variant | T/A | snv | 10 | |||
rs2972146 | 0.882 | 0.040 | 2 | 226235982 | intergenic variant | G/T | snv | 0.72 | 9 | ||
rs1010 | 0.807 | 0.120 | 2 | 85581859 | 3 prime UTR variant | T/C;G | snv | 7 | |||
rs2943650 | 0.827 | 0.120 | 2 | 226241205 | intergenic variant | C/T | snv | 0.58 | 6 | ||
rs200222843 | 0.851 | 0.120 | 2 | 21003286 | missense variant | G/A | snv | 4.0E-05 | 4.2E-05 | 4 | |
rs537765533 | 0.882 | 0.080 | 2 | 113132839 | missense variant | G/C | snv | 2.0E-05 | 3 | ||
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 | |||
rs1799864 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 68 | |
rs3732378 | 0.620 | 0.720 | 3 | 39265671 | missense variant | G/A | snv | 0.14 | 0.12 | 48 | |
rs3732379 | 0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 | 38 | |
rs5182 | 0.742 | 0.160 | 3 | 148741608 | synonymous variant | C/T | snv | 0.49 | 0.41 | 16 | |
rs1126478 | 0.763 | 0.240 | 3 | 46459723 | missense variant | T/C | snv | 0.41 | 0.51 | 11 | |
rs185847354 | 0.763 | 0.160 | 3 | 186854460 | missense variant | T/C | snv | 3.1E-04 | 7.0E-05 | 11 |