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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | |||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.010 | < 0.001 | 1 | 1999 | 1999 | |||||||||
|
1.000 | 0.080 | 10 | 8702058 | regulatory region variant | A/G;T | snv |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.160 | 1 | 24951491 | intron variant | C/T | snv | 0.48 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.080 | 9 | 21974571 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 5 | 112767314 | missense variant | G/T | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.080 | 22 | 50523735 | missense variant | A/G | snv | 8.0E-06 |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 2 | 11228952 | intron variant | G/A | snv | 0.38 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.776 | 0.240 | 14 | 75047125 | missense variant | G/A | snv | 0.40 | 0.43 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | |||||||
|
0.649 | 0.520 | 20 | 46014472 | missense variant | G/A;C | snv | 0.16 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 10 | 129708022 | missense variant | C/T | snv | 6.0E-05 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.695 | 0.240 | 10 | 133526341 | non coding transcript exon variant | C/T | snv | 3.1E-02 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 1 | 24917276 | intron variant | A/G | snv | 0.45 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.667 | 0.520 | 20 | 46013767 | missense variant | G/C;T | snv | 0.88; 1.6E-05 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.776 | 0.360 | 10 | 99804058 | missense variant | G/A | snv | 0.19 | 0.19 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.672 | 0.320 | 8 | 142680513 | 5 prime UTR variant | C/T | snv | 0.46 | 0.45 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.120 | 18 | 48932953 | intron variant | C/T | snv | 0.52 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.716 | 0.480 | 6 | 52237046 | missense variant | T/C | snv | 6.7E-02 | 6.1E-02 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.763 | 0.280 | 3 | 179148620 | intron variant | C/T | snv | 0.18 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.649 | 0.320 | 5 | 1295234 | upstream gene variant | A/G | snv | 0.25 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 |