| 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 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 |
|
0.730 | 1.000 | 3 | 1998 | 2016 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.952 | 21 | 1997 | 2019 | |||||||
|
0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 |
|
0.090 | 1.000 | 9 | 1999 | 2015 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.090 | 0.889 | 9 | 1999 | 2020 | |||||||||
|
0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv |
|
0.090 | 1.000 | 9 | 1999 | 2018 | |||||||||
|
0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 |
|
0.070 | 1.000 | 7 | 2000 | 2018 | ||||||||
|
0.716 | 0.440 | 11 | 46719773 | missense variant | G/A;T | snv | 4.5E-06; 4.5E-06 |
|
0.030 | 1.000 | 3 | 1999 | 2008 | ||||||||
|
0.763 | 0.320 | 3 | 93905799 | missense variant | T/C | snv | 2.8E-05 | 1.4E-05 |
|
0.030 | 1.000 | 3 | 2006 | 2010 | |||||||
|
1.000 | 0.040 | 4 | 186286227 | non coding transcript exon variant | C/T | snv | 0.35 |
|
0.030 | 1.000 | 3 | 2009 | 2016 | ||||||||
|
0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv |
|
0.020 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.020 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.020 | 0.500 | 2 | 2008 | 2018 | |||||||
|
0.882 | 0.160 | 4 | 186271327 | intron variant | T/C | snv | 0.57 |
|
0.020 | 1.000 | 2 | 2009 | 2016 | ||||||||
|
0.807 | 0.240 | 4 | 154604124 | downstream gene variant | G/A | snv | 0.26 |
|
0.020 | 1.000 | 2 | 2007 | 2010 | ||||||||
|
0.827 | 0.120 | 4 | 154586438 | missense variant | T/A;C | snv | 0.29 |
|
0.020 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2005 | 2014 | ||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.020 | 1.000 | 2 | 2009 | 2015 | ||||||||
|
0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2006 | 2010 | ||||||||
|
0.732 | 0.240 | 20 | 23048087 | missense variant | G/A;T | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.280 | 17 | 64350416 | missense variant | T/C | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 1 | 169546573 | missense variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 1 | 169555300 | missense variant | T/C | snv | 6.9E-04 | 2.0E-04 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
1.000 | 0.040 | 1 | 11792279 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.160 | 4 | 154585712 | splice acceptor variant | G/A;C;T | snv | 4.8E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 |