| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
0.030 | 1.000 | 3 | 2005 | 2011 | ||||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.030 | 0.667 | 3 | 2003 | 2015 | |||||||||
|
0.695 | 0.320 | 12 | 12718165 | missense variant | T/A;C;G | snv | 1.6E-04; 1.6E-05; 0.26 |
|
0.730 | 0.750 | 3 | 2004 | 2019 | ||||||||
|
0.807 | 0.120 | 8 | 16155139 | missense variant | G/A;C | snv | 4.0E-06; 0.11 |
|
0.030 | 1.000 | 3 | 2006 | 2015 | ||||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.030 | 1.000 | 3 | 2007 | 2015 | ||||||||
|
0.708 | 0.320 | 13 | 49630889 | missense variant | T/C;G | snv | 0.39 |
|
0.030 | 1.000 | 3 | 2008 | 2013 | ||||||||
|
0.882 | 0.160 | X | 51486831 | downstream gene variant | A/G | snv |
|
0.730 | 1.000 | 3 | 2008 | 2010 | |||||||||
|
0.882 | 0.080 | 8 | 16168568 | missense variant | C/A;G;T | snv | 1.6E-03; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2003 | 2006 | ||||||||
|
0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 |
|
0.030 | 1.000 | 3 | 2004 | 2012 | ||||||||
|
0.925 | 0.080 | 8 | 42369855 | missense variant | A/G | snv | 4.4E-06 |
|
0.030 | 1.000 | 3 | 2005 | 2017 | ||||||||
|
0.851 | 0.120 | 12 | 102497908 | regulatory region variant | T/A;C | snv |
|
0.030 | 1.000 | 3 | 2006 | 2015 | |||||||||
|
0.882 | 0.200 | X | 67711621 | missense variant | T/A | snv |
|
0.030 | 1.000 | 3 | 2002 | 2010 | |||||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
0.020 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
0.851 | 0.120 | 1 | 119514623 | missense variant | C/A | snv | 0.75 |
|
0.020 | 1.000 | 2 | 2002 | 2007 | ||||||||
|
0.851 | 0.080 | X | 67723707 | missense variant | T/C | snv |
|
0.020 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
0.882 | 0.200 | 19 | 18388612 | missense variant | C/G;T | snv | 0.24; 9.1E-06 |
|
0.020 | 1.000 | 2 | 2006 | 2018 | ||||||||
|
0.925 | 0.080 | 6 | 42960723 | upstream gene variant | C/G;T | snv | 0.39 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv |
|
0.720 | 0.750 | 2 | 2013 | 2018 | |||||||||
|
0.851 | 0.080 | 17 | 12992957 | missense variant | C/A;T | snv | 4.0E-06; 5.3E-04 |
|
0.020 | 1.000 | 2 | 2005 | 2019 | ||||||||
|
0.925 | 0.080 | 8 | 127519444 | intergenic variant | A/G;T | snv |
|
0.720 | 1.000 | 2 | 2009 | 2015 | |||||||||
|
0.827 | 0.120 | 11 | 75172532 | missense variant | G/A;T | snv | 0.18 |
|
0.020 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
0.807 | 0.160 | 8 | 127092098 | non coding transcript exon variant | C/A;T | snv |
|
0.720 | 0.667 | 2 | 2008 | 2012 | |||||||||
|
0.925 | 0.080 | 17 | 13000197 | frameshift variant | T/- | del | 4.0E-06 |
|
0.020 | 0.500 | 2 | 2005 | 2008 | ||||||||
|
0.882 | 0.080 | X | 67723701 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 1997 | 2007 | |||||||||
|
0.925 | 0.080 | 17 | 7674863 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2013 | 2013 |