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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 18 | 60372045 | missense variant | A/C;G | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 1.000 | 0.080 | 16 | 53773852 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.200 | 21 | 44891898 | synonymous variant | A/C;G | snv | 0.68 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
12 | 0.742 | 0.480 | 12 | 121184501 | missense variant | A/C;G | snv | 0.19; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.160 | 6 | 36765293 | intron variant | A/C;G | snv | 4.0E-06; 0.12 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 16 | 53763653 | intron variant | A/C;G | snv | 0.74 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.925 | 0.120 | 11 | 27635363 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.160 | 17 | 7667762 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 16 | 78918542 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 1.000 | 0.080 | 19 | 33831232 | intergenic variant | A/C;G;T | snv | 0.65 | 0.020 | 0.500 | 2 | 2012 | 2015 | ||||
|
3 | 0.882 | 0.120 | 2 | 164645339 | intergenic variant | A/C;G;T | snv | 0.020 | 0.500 | 2 | 2016 | 2018 | |||||
|
2 | 1.000 | 0.080 | 8 | 109097622 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.120 | 5 | 123146549 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.827 | 0.280 | 11 | 5227101 | 5 prime UTR variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
13 | 0.763 | 0.360 | 12 | 102481791 | upstream gene variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 4 | 9998877 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.040 | 0.750 | 4 | 2004 | 2007 | ||||
|
4 | 1.000 | 0.080 | 18 | 60185715 | intergenic variant | A/C;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 1.000 | 0.080 | 2 | 629244 | regulatory region variant | A/C;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
16 | 0.708 | 0.400 | 14 | 64295199 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
10 | 0.790 | 0.240 | 11 | 2835964 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 11 | 113393748 | synonymous variant | A/C;T | snv | 0.64; 4.1E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 |