| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.080 | 1.000 | 8 | 2010 | 2015 | ||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.080 | 1.000 | 8 | 2007 | 2014 | ||||||||
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.080 | 1.000 | 8 | 2007 | 2014 | ||||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.080 | 0.875 | 8 | 2007 | 2017 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.080 | 1.000 | 8 | 2005 | 2013 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.070 | 1.000 | 7 | 2010 | 2015 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.070 | 1.000 | 7 | 2010 | 2015 | |||||||||
|
0.776 | 0.240 | 8 | 127705823 | intron variant | G/A;T | snv |
|
0.060 | 1.000 | 6 | 2009 | 2015 | |||||||||
|
0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv |
|
0.040 | 1.000 | 4 | 2003 | 2017 | |||||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.030 | 0.667 | 3 | 2007 | 2013 | ||||||||
|
0.882 | 0.120 | 2 | 233656637 | intron variant | A/C;T | snv |
|
0.030 | 0.667 | 3 | 2010 | 2015 | |||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.030 | 1.000 | 3 | 2011 | 2015 | ||||||||
|
0.742 | 0.320 | 6 | 43771240 | synonymous variant | C/G;T | snv | 8.5E-06; 0.16 |
|
0.030 | 1.000 | 3 | 2010 | 2019 | ||||||||
|
0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv |
|
0.030 | 0.667 | 3 | 2017 | 2019 | |||||||||
|
0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv |
|
0.020 | 0.500 | 2 | 2004 | 2014 | |||||||||
|
0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 |
|
0.020 | 1.000 | 2 | 2007 | 2019 | ||||||||
|
0.882 | 0.120 | 18 | 45729946 | 5 prime UTR variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2014 | |||||||||
|
0.695 | 0.480 | 16 | 28503907 | missense variant | A/C;T | snv | 6.4E-02; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2015 | 2015 | ||||||||
|
0.742 | 0.240 | 17 | 7676230 | missense variant | G/A;T | snv | 1.2E-03 |
|
0.020 | 0.500 | 2 | 2011 | 2011 | ||||||||
|
0.641 | 0.480 | 11 | 1995678 | non coding transcript exon variant | G/A | snv | 0.20 |
|
0.020 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.732 | 0.240 | 4 | 1804426 | missense variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2006 | 2015 | |||||||||
|
0.790 | 0.240 | 4 | 69098619 | missense variant | AT/TC | mnv |
|
0.020 | 1.000 | 2 | 2005 | 2008 | |||||||||
|
0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
0.827 | 0.240 | 4 | 69112695 | missense variant | T/C | snv | 1.6E-05 |
|
0.020 | 1.000 | 2 | 2005 | 2008 | ||||||||
|
0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 |
|
0.020 | 1.000 | 2 | 2001 | 2013 |