Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs1800470 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 107 | ||
rs2275913 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 105 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs731236 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 81 | |
rs1544410 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 78 | |||
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 | ||
rs6166 | 0.708 | 0.240 | 2 | 48962782 | missense variant | C/T | snv | 0.57 | 0.57 | 17 | |
rs3751143 | 0.742 | 0.480 | 12 | 121184501 | missense variant | A/C;G | snv | 0.19; 4.0E-06 | 12 | ||
rs72653170 | 0.752 | 0.240 | 17 | 50188908 | missense variant | G/A | snv | 8.0E-06 | 10 | ||
rs66612022 | 0.763 | 0.240 | 7 | 94409768 | missense variant | G/A;T | snv | 9 | |||
rs72659319 | 0.763 | 0.240 | 7 | 94426459 | missense variant | G/A;C | snv | 9 | |||
rs72645357 | 0.776 | 0.240 | 17 | 50196163 | missense variant | C/T | snv | 8 | |||
rs67543427 | 0.776 | 0.240 | 7 | 94410457 | missense variant | G/A;T | snv | 8 | |||
rs1555574303 | 0.790 | 0.240 | 17 | 50196172 | missense variant | C/G | snv | 7 | |||
rs66490707 | 0.790 | 0.240 | 17 | 50195231 | splice donor variant | C/G;T | snv | 7 | |||
rs66555264 | 0.790 | 0.240 | 17 | 50192993 | splice donor variant | C/A;T | snv | 7 | |||
rs67879854 | 0.790 | 0.240 | 17 | 50190578 | missense variant | C/A;T | snv | 7 | |||
rs72648326 | 0.790 | 0.240 | 17 | 50195288 | stop gained | G/A | snv | 7 | |||
rs72651642 | 0.790 | 0.240 | 17 | 50191826 | stop gained | G/A | snv | 7.0E-06 | 7 | ||
rs2230911 | 0.807 | 0.360 | 12 | 121177328 | missense variant | C/G | snv | 0.14 | 0.12 | 6 | |
rs2274907 | 0.851 | 0.200 | 1 | 160882036 | missense variant | A/G;T | snv | 0.66 | 5 | ||
rs4844880 | 0.882 | 0.240 | 1 | 209697571 | intron variant | A/T | snv | 0.70 | 4 |