Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 48 | ||
rs104886003 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 35 | ||
rs121913274 | 0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv | 30 | |||
rs121913275 | 0.672 | 0.320 | 3 | 179218305 | missense variant | G/A;C;T | snv | 4.0E-06 | 25 | ||
rs138729528 | 0.677 | 0.480 | 17 | 7675089 | missense variant | G/A;C | snv | 1.6E-05 | 25 | ||
rs28934573 | 0.667 | 0.480 | 17 | 7674241 | missense variant | G/A;C;T | snv | 4.0E-06 | 24 | ||
rs587780070 | 0.683 | 0.320 | 17 | 7675077 | missense variant | G/A;C;T | snv | 4.0E-06 | 23 | ||
rs876660821 | 0.689 | 0.400 | 17 | 7675075 | missense variant | A/C;G;T | snv | 21 | |||
rs1057520002 | 0.695 | 0.360 | 17 | 7674242 | missense variant | A/C;G | snv | 20 | |||
rs1057519991 | 0.662 | 0.440 | 17 | 7675076 | missense variant | T/A;C;G | snv | 4.0E-06 | 19 | ||
rs1800469 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 10 | ||
rs1057519893 | 0.790 | 0.160 | 12 | 56085070 | missense variant | G/A;T | snv | 9 | |||
rs1057519738 | 0.790 | 0.160 | 17 | 39725079 | missense variant | G/A | snv | 4.0E-06 | 7 | ||
rs2294008 | 0.672 | 0.320 | 8 | 142680513 | 5 prime UTR variant | C/T | snv | 0.46 | 0.45 | 7 | |
rs11887534 | 0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 | 6 | ||
rs7120118 | 0.716 | 0.360 | 11 | 47264739 | intron variant | T/C | snv | 0.38 | 4 | ||
rs2274223 | 0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 | 4 | |
rs28934571 | 0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv | 4 | |||
rs2234767 | 0.649 | 0.280 | 10 | 88989499 | intron variant | G/A;T | snv | 0.15 | 1 | ||
rs763110 | 0.653 | 0.560 | 1 | 172658358 | upstream gene variant | C/T | snv | 0.49 | 1 | ||
rs11614913 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 1 | |
rs17577 | 0.649 | 0.520 | 20 | 46014472 | missense variant | G/A;C | snv | 0.16 | 1 | ||
rs2250889 | 0.667 | 0.520 | 20 | 46013767 | missense variant | G/C;T | snv | 0.88; 1.6E-05 | 1 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 1 |