Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 17 | 45971888 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.120 | 17 | 45983724 | missense variant | T/G | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.120 | 3 | 119863583 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
4 | 0.882 | 0.120 | 14 | 77469161 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
11 | 0.763 | 0.200 | 9 | 35065363 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2008 | 2009 | |||||
|
11 | 0.752 | 0.200 | 9 | 35065364 | missense variant | G/A;C;T | snv | 0.030 | 1.000 | 3 | 2005 | 2012 | |||||
|
5 | 0.851 | 0.200 | 9 | 35064167 | missense variant | G/T | snv | 0.020 | 1.000 | 2 | 2009 | 2012 | |||||
|
4 | 0.882 | 0.120 | 17 | 45983865 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 0.925 | 0.120 | 17 | 46024034 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.120 | 8 | 109575782 | frameshift variant | GA/- | delins | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
9 | 0.790 | 0.160 | 21 | 26000095 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.120 | 9 | 36840599 | missense variant | G/A | snv | 1.0E-05 | 9.8E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
2 | 0.925 | 0.120 | 2 | 79121657 | missense variant | C/G;T | snv | 8.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 5 | 102399606 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
17 | 0.724 | 0.240 | 17 | 45991484 | missense variant | G/A;T | snv | 1.5E-03; 1.2E-05 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
4 | 0.851 | 0.120 | 14 | 73206384 | splice acceptor variant | A/T | snv | 0.700 | 1.000 | 3 | 2010 | 2017 | |||||
|
3 | 0.882 | 0.120 | 7 | 12148903 | intergenic variant | T/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 10 | 46033495 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
16 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
12 | 0.807 | 0.200 | 7 | 12229791 | missense variant | C/A;G | snv | 0.49 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.776 | 0.120 | X | 56565363 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.807 | 0.120 | X | 56565389 | missense variant | C/A;T | snv | 6.6E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.742 | 0.200 | 9 | 35065352 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.120 | 2 | 79121649 | missense variant | A/G;T | snv | 8.0E-06; 5.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 |