| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.611 | 0.680 | 20 | 58909201 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
0.030 | 1.000 | 3 | 2006 | 2010 | |||||||
|
0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.701 | 0.440 | 14 | 61747130 | 3 prime UTR variant | T/C | snv | 0.84 | 0.80 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.701 | 0.240 | 14 | 53944201 | downstream gene variant | T/C | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.742 | 0.520 | 8 | 38414790 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
4 | 54277974 | missense variant | T/C | snv | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
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 | |||||||||
|
0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv |
|
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 | |||||||||
|
0.827 | 0.280 | 2 | 136114915 | stop gained | G/C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 9 | 130872201 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.080 | 6 | 43774362 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2018 | |||||||||
|
0.790 | 0.160 | 15 | 98960571 | 3 prime UTR variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.790 | 0.200 | 2 | 47416318 | missense variant | G/A;T | snv | 1.3E-02; 2.0E-05 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.732 | 0.320 | 17 | 7674237 | missense variant | G/A;C | snv |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||||
|
0.851 | 0.200 | 17 | 7670700 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.882 | 0.280 | 1 | 11247922 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |