Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs764948729 | 0.925 | 0.080 | 6 | 160731092 | missense variant | A/C | snv | 4.0E-06 | 3 | ||
rs422187 | 1.000 | 0.040 | X | 139550700 | intron variant | A/C;G | snv | 1 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs1801394 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 101 | |
rs1799889 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 31 | |||
rs147377392 | 0.763 | 0.120 | 20 | 23048144 | missense variant | A/G | snv | 1.0E-04 | 2.8E-04 | 11 | |
rs1926447 | 0.807 | 0.440 | 13 | 46055809 | missense variant | A/G | snv | 0.74 | 0.77 | 10 | |
rs200960801 | 0.827 | 0.200 | 6 | 151944488 | missense variant | A/G | snv | 4.0E-06 | 6 | ||
rs12634349 | 1.000 | 0.040 | 3 | 93882955 | intron variant | A/G | snv | 0.34 | 1 | ||
rs556266847 | 1.000 | 0.040 | 1 | 169550655 | missense variant | A/G | snv | 1 | |||
rs6048 | 1.000 | 0.040 | X | 139551121 | missense variant | A/G | snv | 0.22 | 0.23 | 1 | |
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs1799810 | 1.000 | 0.040 | 2 | 127418464 | 5 prime UTR variant | A/T | snv | 0.38 | 0.44 | 2 | |
rs13146272 | 1.000 | 0.040 | 4 | 186199057 | missense variant | C/A | snv | 0.57 | 0.61 | 2 | |
rs9797861 | 0.790 | 0.200 | 19 | 10632450 | intron variant | C/A;G;T | snv | 6 | |||
rs5985 | 0.724 | 0.280 | 6 | 6318562 | missense variant | C/A;T | snv | 0.20; 2.4E-05 | 18 | ||
rs12953 | 0.763 | 0.200 | 17 | 64356203 | missense variant | C/A;T | snv | 0.38 | 9 | ||
rs2000813 | 0.763 | 0.200 | 18 | 49567494 | missense variant | C/A;T | snv | 4.0E-06; 0.27; 4.0E-06 | 0.23 | 8 | |
rs2227721 | 0.925 | 0.080 | 17 | 28370430 | intron variant | C/A;T | snv | 0.12 | 2 | ||
rs780533499 | 1.000 | 0.040 | 20 | 23048100 | missense variant | C/A;T | snv | 4.1E-06 | 1 | ||
rs6441600 | 1.000 | 0.040 | 3 | 93956895 | intron variant | C/G | snv | 0.97 | 1 | ||
rs4149584 | 0.683 | 0.440 | 12 | 6333477 | missense variant | C/G;T | snv | 4.0E-06; 1.3E-02 | 24 | ||
rs281865545 | 0.695 | 0.360 | 17 | 64377836 | missense variant | C/G;T | snv | 18 | |||
rs1188383936 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 102 |