| 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 | 0.040 | 19 | 7909761 | missense variant | A/G | snv |
|
0.020 | 1.000 | 2 | 2005 | 2015 | |||||||||
|
0.925 | 0.040 | 15 | 66436816 | missense variant | G/C | snv |
|
0.720 | 1.000 | 2 | 2011 | 2014 | |||||||||
|
0.925 | 0.040 | 15 | 66436815 | missense variant | T/A | snv |
|
0.020 | 1.000 | 2 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 16 | 89919683 | missense variant | G/A | snv | 5.3E-03 | 4.7E-03 |
|
0.020 | 1.000 | 2 | 2006 | 2011 | |||||||
|
1.000 | 0.040 | 3 | 53284850 | 3 prime UTR variant | C/A | snv | 0.16 |
|
0.020 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
1.000 | 0.040 | 4 | 147542604 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 8.0E-06 |
|
0.020 | 1.000 | 2 | 2009 | 2018 | ||||||||
|
1.000 | 0.040 | 11 | 113809254 | missense variant | T/A | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
0.925 | 0.040 | 20 | 23035958 | missense variant | C/A;T | snv | 4.1E-06; 4.1E-06 |
|
0.020 | 1.000 | 2 | 2009 | 2018 | ||||||||
|
1.000 | 0.040 | 1 | 226376990 | intron variant | T/C | snv | 0.58 |
|
0.820 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
1.000 | 0.040 | 21 | 41374154 | intron variant | C/T | snv | 0.48 |
|
0.820 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
1.000 | 0.040 | 20 | 34767243 | intron variant | G/A | snv | 0.93 |
|
0.720 | 1.000 | 2 | 2008 | 2014 | ||||||||
|
1.000 | 0.040 | 15 | 27986635 | missense variant | T/A | snv |
|
0.020 | 1.000 | 2 | 2008 | 2008 | |||||||||
|
1.000 | 0.040 | 20 | 23036363 | missense variant | C/G | snv | 1.6E-05 |
|
0.020 | 1.000 | 2 | 2009 | 2018 | ||||||||
|
1.000 | 0.040 | 6 | 33179444 | missense variant | C/A;T | snv | 2.9E-05 |
|
0.020 | 1.000 | 2 | 2010 | 2011 | ||||||||
|
1.000 | 0.040 | 20 | 34150529 | intergenic variant | G/A | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 7 | 20742471 | intron variant | C/T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 5 | 159079407 | intron variant | T/G | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 17 | 37513222 | 3 prime UTR variant | T/C | snv | 9.9E-02 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 19 | 4110586 | missense variant | A/T | snv |
|
0.710 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 19 | 4117543 | missense variant | T/G | snv |
|
0.710 | 1.000 | 1 | 2013 | 2014 | |||||||||
|
1.000 | 0.040 | 4 | 54727440 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 4 | 54727488 | missense variant | A/G | snv |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.040 | 8 | 89982791 | synonymous variant | C/T | snv | 0.35 | 0.33 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.851 | 0.040 | 1 | 236021631 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.040 | 16 | 89919722 | missense variant | T/C | snv | 5.6E-03 | 6.6E-03 |
|
0.010 | 1.000 | 1 | 2008 | 2008 |