| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
0.020 | 1.000 | 2 | 2006 | 2014 | ||||||||
|
0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 |
|
0.020 | 0.500 | 2 | 2007 | 2011 | ||||||||
|
0.649 | 0.640 | 19 | 41353016 | missense variant | G/A;C | snv |
|
0.020 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.020 | 1.000 | 2 | 2006 | 2019 | ||||||||
|
0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
0.882 | 0.080 | 19 | 48165573 | 5 prime UTR variant | G/A;C | snv | 0.13 |
|
0.020 | 0.500 | 2 | 2008 | 2015 | ||||||||
|
0.724 | 0.320 | 5 | 83076846 | intron variant | G/A;T | snv |
|
0.020 | 0.500 | 2 | 2009 | 2011 | |||||||||
|
0.732 | 0.280 | 11 | 1999845 | intron variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2016 | 2018 | |||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.020 | 1.000 | 2 | 2017 | 2017 | ||||||||
|
0.732 | 0.360 | 19 | 9834503 | non coding transcript exon variant | G/A;C | snv |
|
0.020 | 1.000 | 2 | 2011 | 2013 | |||||||||
|
0.695 | 0.440 | 13 | 30463766 | 5 prime UTR variant | G/A;C;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2017 | |||||||||
|
0.851 | 0.160 | 17 | 7674859 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.827 | 0.200 | 19 | 45419065 | intron variant | G/A;T | snv | 1.9E-04; 0.20 |
|
0.020 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
0.752 | 0.200 | 6 | 161785820 | missense variant | G/A;T | snv | 1.9E-03; 8.0E-06 |
|
0.720 | 0.500 | 2 | 2015 | 2020 | ||||||||
|
0.683 | 0.400 | 21 | 43104346 | missense variant | G/A;T | snv | 8.0E-06 |
|
0.020 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
0.790 | 0.120 | 9 | 97687210 | missense variant | T/C;G | snv | 1.2E-05; 2.0E-05 |
|
0.020 | 1.000 | 2 | 2004 | 2007 | ||||||||
|
0.827 | 0.200 | 5 | 1319565 | intron variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2014 | |||||||||
|
0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv |
|
0.020 | 1.000 | 2 | 2012 | 2018 | |||||||||
|
0.752 | 0.360 | 1 | 109688180 | missense variant | C/T | snv | 4.8E-04 |
|
0.020 | 1.000 | 2 | 2008 | 2017 | ||||||||
|
0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2014 | |||||||||
|
0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv |
|
0.020 | 1.000 | 2 | 2008 | 2009 | |||||||||
|
0.882 | 0.080 | 6 | 111390819 | intron variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.080 | 5 | 1279849 | intron variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.080 | 2 | 50420809 | intron variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.080 | 17 | 7674225 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 1993 | 1993 |