Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs9983925 | 21 | 45216929 | intron variant | C/T | snv | 0.46 | 4 | ||||
rs1799920 | 5 | 63961656 | missense variant | C/G;T | snv | 3.2E-04 | 2 | ||||
rs1799921 | 5 | 63961638 | missense variant | T/C | snv | 9.4E-03 | 9.3E-03 | 2 | |||
rs200754713 | 1 | 226888954 | missense variant | A/G | snv | 4.0E-06; 4.0E-06 | 2 | ||||
rs2049161 | 18 | 4127583 | intron variant | A/C;T | snv | 0.22 | 2 | ||||
rs279827 | 4 | 46332685 | splice region variant | A/G;T | snv | 0.44 | 0.41 | 2 | |||
rs35369693 | 1 | 206116696 | missense variant | C/G;T | snv | 4.3E-02 | 2 | ||||
rs1466835565 | 10 | 69368539 | missense variant | A/G | snv | 1 | |||||
rs754747375 | 10 | 69369252 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 1 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 264 | |
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs4938723 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 60 | ||
rs25531 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 72 | ||
rs34637584 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 78 | |
rs9340799 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 62 | ||
rs6280 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 57 | |
rs104893877 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 58 | |||
rs1800497 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 56 | |
rs6318 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 42 |