| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 4 | 69576447 | intron variant | A/G | snv | 0.76 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 5 | 168286995 | upstream gene variant | C/T | snv | 2.1E-02 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 6 | 149397514 | intron variant | C/T | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 6 | 162541796 | intron variant | G/A | snv | 0.74 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.280 | 6 | 104960124 | intron variant | A/C | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.120 | 6 | 3580855 | downstream gene variant | T/A | snv | 8.2E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.020 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
0.925 | 0.120 | 7 | 35307237 | intergenic variant | G/A | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 7 | 11524758 | intron variant | C/G | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 7 | 55020815 | intron variant | T/C | snv | 1.4E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 7 | 27185939 | non coding transcript exon variant | A/T | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.160 | 7 | 1936821 | missense variant | C/G;T | snv | 0.35 | 0.29 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 7 | 50674920 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.925 | 0.120 | 7 | 2907529 | intron variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.827 | 0.200 | 7 | 87595783 | missense variant | C/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.120 | 7 | 1898249 | missense variant | C/A;G;T | snv | 4.0E-06; 2.8E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2008 | 2008 |