| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.030 | 0.667 | 3 | 2012 | 2017 | |||||||||
|
0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 |
|
0.030 | 1.000 | 3 | 2009 | 2014 | ||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2004 | 2018 | ||||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
0.030 | 1.000 | 3 | 2003 | 2009 | |||||||
|
0.724 | 0.520 | 11 | 73983709 | non coding transcript exon variant | C/T | snv | 0.40 |
|
0.030 | 1.000 | 3 | 2010 | 2017 | ||||||||
|
0.827 | 0.160 | 6 | 26458037 | 5 prime UTR variant | T/C | snv | 0.70 |
|
0.030 | 1.000 | 3 | 2011 | 2014 | ||||||||
|
0.851 | 0.080 | 11 | 17396930 | missense variant | C/A;T | snv | 0.64; 8.0E-06 |
|
0.030 | 1.000 | 3 | 2007 | 2015 | ||||||||
|
0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 |
|
0.030 | 1.000 | 3 | 2010 | 2016 | ||||||||
|
0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 |
|
0.030 | 0.333 | 3 | 2016 | 2019 | |||||||
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.020 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
0.925 | 0.080 | 7 | 44151050 | missense variant | A/G | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.851 | 0.200 | 1 | 162115895 | intron variant | G/T | snv | 0.54 |
|
0.020 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 |
|
0.020 | 0.500 | 2 | 2007 | 2012 | |||||||
|
0.807 | 0.160 | 1 | 182112825 | intron variant | C/T | snv | 0.36 |
|
0.020 | 1.000 | 2 | 2013 | 2018 | ||||||||
|
0.827 | 0.160 | 6 | 20660803 | intron variant | A/C | snv | 0.40 |
|
0.020 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
0.827 | 0.200 | 11 | 108412434 | intron variant | C/A | snv | 0.49 |
|
0.020 | 0.500 | 2 | 2012 | 2012 | ||||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
0.020 | 1.000 | 2 | 2013 | 2019 | |||||||
|
0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv |
|
0.020 | 1.000 | 2 | 2000 | 2015 | |||||||||
|
1.000 | 0.040 | 12 | 120999579 | missense variant | A/G | snv | 1.00 | 0.99 |
|
0.020 | 1.000 | 2 | 2000 | 2002 | |||||||
|
0.882 | 0.080 | 2 | 10048376 | missense variant | G/T | snv | 1.3E-04 | 8.4E-05 |
|
0.020 | 0.500 | 2 | 2005 | 2006 | |||||||
|
0.882 | 0.120 | 10 | 12286011 | intergenic variant | A/G | snv | 0.17 |
|
0.020 | 1.000 | 2 | 2008 | 2013 | ||||||||
|
0.827 | 0.200 | 16 | 20354332 | intron variant | A/G | snv | 0.23 |
|
0.710 | 1.000 | 2 | 2011 | 2018 | ||||||||
|
0.925 | 0.080 | 13 | 27920314 | missense variant | A/T | snv | 1.5E-05 | 1.4E-05 |
|
0.020 | 1.000 | 2 | 1999 | 2000 | |||||||
|
0.851 | 0.080 | 20 | 44413714 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-05 |
|
0.020 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 |
|
0.020 | 1.000 | 2 | 2010 | 2017 |