Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.807 | 0.240 | 1 | 159709026 | upstream gene variant | C/A;T | snv | 0.800 | 1.000 | 8 | 2007 | 2019 | |||||
|
7 | 0.925 | 0.160 | 12 | 120987058 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 6 | 2008 | 2019 | |||||
|
8 | 0.827 | 0.280 | 12 | 120997784 | synonymous variant | G/A;T | snv | 6.7E-06; 0.40 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||
|
17 | 0.724 | 0.280 | 1 | 159714875 | upstream gene variant | G/A;T | snv | 0.800 | 1.000 | 4 | 2008 | 2018 | |||||
|
13 | 0.807 | 0.200 | 1 | 154453788 | intron variant | C/G;T | snv | 0.800 | 1.000 | 4 | 2011 | 2019 | |||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.800 | 1.000 | 3 | 2008 | 2019 | ||||
|
1 | 1 | 159696131 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2012 | 2013 | |||||||
|
9 | 0.827 | 0.200 | 1 | 159709846 | upstream gene variant | A/C;G;T | snv | 0.700 | 1.000 | 3 | 2012 | 2014 | |||||
|
2 | 12 | 120982457 | intron variant | A/C;G | snv | 0.800 | 1.000 | 3 | 2012 | 2019 | |||||||
|
1 | 1 | 159226975 | regulatory region variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2007 | 2012 | |||||||
|
6 | 12 | 121004867 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||||
|
28 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 0.800 | 1.000 | 2 | 2013 | 2018 | ||||
|
2 | 12 | 120967323 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2012 | 2013 | |||||||
|
1 | 12 | 120986771 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||||
|
1 | 1 | 159308461 | downstream gene variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2007 | 2012 | |||||||
|
1 | 1 | 159436169 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2007 | 2012 | |||||||
|
8 | 9 | 133266942 | intron variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2012 | 2018 | |||||||
|
1 | 1 | 159685728 | intergenic variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
1 | 5 | 6937069 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 7 | 4865424 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 159740595 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 6 | 88403098 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
4 | 17 | 74703694 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 11 | 81025386 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 12 | 103143488 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |