Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1799889 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 31 | |||
rs2507800 | 1.000 | 0.040 | 8 | 107250441 | 3 prime UTR variant | T/A | snv | 0.36 | 2 | ||
rs3756261 | 0.925 | 0.160 | 4 | 109911150 | upstream gene variant | T/C | snv | 9.9E-02 | 2 | ||
rs7020782 | 1.000 | 0.040 | 9 | 116344602 | missense variant | C/A | snv | 0.68 | 0.59 | 1 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1801131 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 93 | |
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs7576192 | 1.000 | 0.040 | 2 | 120360455 | intergenic variant | A/G | snv | 0.68 | 2 | ||
rs7579169 | 1.000 | 0.040 | 2 | 120360548 | intergenic variant | T/C | snv | 0.68 | 2 | ||
rs5370 | 0.630 | 0.520 | 6 | 12296022 | missense variant | G/T | snv | 0.23 | 0.21 | 37 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs2234693 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 77 | ||
rs9340799 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 62 | ||
rs1800595 | 0.925 | 0.080 | 1 | 169541110 | missense variant | T/C;G | snv | 5.7E-02 | 2 | ||
rs6025 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 43 | ||
rs351855 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 58 | |
rs779370907 | 1.000 | 0.040 | 19 | 18436405 | synonymous variant | C/T | snv | 6.0E-05 | 1.4E-05 | 1 | |
rs780972489 | 1.000 | 0.040 | 19 | 18436831 | synonymous variant | C/T | snv | 8.9E-06 | 7.0E-06 | 1 | |
rs268 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 41 | |
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
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 | ||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs4762 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 35 |