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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.100 | 0.857 | 14 | 2010 | 2019 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 0.857 | 14 | 2010 | 2019 | |||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.050 | 0.800 | 5 | 2011 | 2017 | ||||||||
|
0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 |
|
0.020 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2018 | |||||||||
|
0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
0.827 | 0.280 | 2 | 136114915 | stop gained | G/C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.695 | 0.280 | 4 | 54733166 | missense variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
1.000 | 0.080 | 9 | 130872201 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.080 | 5 | 143400101 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.120 | 17 | 7673255 | synonymous variant | G/A | snv | 5.3E-06 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.790 | 0.240 | 2 | 47410107 | missense variant | A/C;G;T | snv | 5.8E-03 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.080 | 17 | 51171503 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 1995 | 1995 |