| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.070 | 1.000 | 7 | 2005 | 2019 | |||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.040 | 0.750 | 4 | 2011 | 2018 | |||||||
|
0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 |
|
0.030 | 1.000 | 3 | 2009 | 2014 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.030 | 0.667 | 3 | 2002 | 2015 | ||||||||
|
0.732 | 0.240 | 20 | 23048087 | missense variant | G/A;T | snv | 0.19 |
|
0.020 | 1.000 | 2 | 2004 | 2014 | ||||||||
|
0.925 | 0.200 | 14 | 64388323 | 5 prime UTR variant | T/C;G | snv | 0.45; 8.1E-06 |
|
0.020 | 1.000 | 2 | 2016 | 2016 | ||||||||
|
0.807 | 0.160 | 1 | 11792345 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2016 | |||||||
|
0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 |
|
0.020 | 1.000 | 2 | 2003 | 2010 | |||||||
|
0.776 | 0.240 | 13 | 113118731 | missense variant | G/A;C | snv | 4.8E-05; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2001 | 2002 | ||||||||
|
0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 |
|
0.020 | 1.000 | 2 | 2000 | 2007 | |||||||
|
0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2010 | 2016 | ||||||||
|
0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv |
|
0.020 | 1.000 | 2 | 2010 | 2011 | |||||||||
|
0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 3 | 38604063 | synonymous variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.882 | 0.160 | 12 | 10158964 | 3 prime UTR variant | T/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.240 | 16 | 3657746 | missense variant | G/A;T | snv | 0.36; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.827 | 0.200 | 20 | 23637790 | missense variant | C/G;T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 13574259 | upstream gene variant | G/C | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.763 | 0.280 | 17 | 64350416 | missense variant | T/C | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.080 | 9 | 136670833 | intron variant | C/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.200 | 13 | 32399302 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.080 | 5 | 53056071 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 |