Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv |
|
0.090 | 0.889 | 9 | 2009 | 2019 | |||||||||
|
0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 |
|
0.780 | 1.000 | 8 | 2007 | 2019 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.040 | 1.000 | 4 | 2014 | 2019 | ||||||||
|
0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 |
|
0.040 | 1.000 | 4 | 2012 | 2017 | ||||||||
|
0.807 | 0.320 | 1 | 203186952 | upstream gene variant | T/A;C | snv |
|
0.030 | 1.000 | 3 | 2009 | 2019 | |||||||||
|
0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 |
|
0.020 | 1.000 | 2 | 2009 | 2011 | |||||||
|
0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | |||||||
|
0.882 | 0.200 | 1 | 154408627 | intron variant | A/G | snv | 0.22 |
|
0.020 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
0.807 | 0.200 | 1 | 154453788 | intron variant | C/G;T | snv |
|
0.820 | 0.667 | 2 | 2011 | 2018 | |||||||||
|
0.851 | 0.240 | 1 | 203186870 | upstream gene variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.080 | 1 | 111289601 | upstream gene variant | T/C | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.732 | 0.440 | 1 | 161674008 | missense variant | T/C | snv | 0.16 | 0.19 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.200 | 1 | 207337251 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | 1 | 64847130 | intron variant | A/G | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.160 | 1 | 161671427 | stop gained | C/T | snv | 2.8E-05 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 1 | 236296485 | intergenic variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.925 | 0.160 | 1 | 115338434 | intron variant | G/A | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.732 | 0.360 | 1 | 169707345 | missense variant | A/G | snv | 0.21 | 0.22 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 1 | 150765721 | 5 prime UTR variant | C/T | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.827 | 0.200 | 1 | 152313454 | missense variant | G/A | snv | 0.27 | 0.19 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.240 | 1 | 228276575 | missense variant | T/C | snv | 0.68 | 0.70 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |