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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.807 | 0.120 | 15 | 78796769 | missense variant | A/G | snv | 0.34 | 0.33 | 0.030 | 1.000 | 3 | 2013 | 2019 | |||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.030 | 0.667 | 3 | 2008 | 2010 | |||||
|
27 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 0.020 | 1.000 | 2 | 2006 | 2008 | ||||
|
39 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 0.020 | 1.000 | 2 | 2010 | 2015 | |||
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.020 | 1.000 | 2 | 2009 | 2019 | ||||
|
6 | 0.807 | 0.120 | 11 | 116836082 | missense variant | C/A | snv | 4.2E-06 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
|
35 | 0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 | 0.020 | 1.000 | 2 | 2002 | 2004 | |||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.020 | 1.000 | 2 | 2014 | 2019 | |||
|
12 | 0.763 | 0.160 | 6 | 39357302 | missense variant | A/G | snv | 0.41 | 0.49 | 0.020 | 1.000 | 2 | 2007 | 2008 | |||
|
15 | 0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2018 | ||||
|
10 | 0.776 | 0.160 | 17 | 4735268 | missense variant | G/A | snv | 0.47 | 0.41 | 0.020 | 1.000 | 2 | 2010 | 2015 | |||
|
16 | 0.724 | 0.320 | 20 | 388261 | missense variant | A/G;T | snv | 0.18; 4.0E-06 | 0.020 | 1.000 | 2 | 2011 | 2016 | ||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
22 | 0.708 | 0.400 | 7 | 150998541 | missense variant | C/T | snv | 4.1E-06 | 4.2E-05 | 0.020 | 1.000 | 2 | 2004 | 2009 | |||
|
10 | 0.763 | 0.240 | 10 | 44258419 | downstream gene variant | T/C | snv | 0.24 | 0.020 | 0.500 | 2 | 2012 | 2013 | ||||
|
14 | 0.742 | 0.240 | 1 | 169726729 | missense variant | G/A | snv | 4.5E-02 | 3.3E-02 | 0.020 | 1.000 | 2 | 1999 | 2019 | |||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.020 | 1.000 | 2 | 2005 | 2012 | |||
|
11 | 0.763 | 0.320 | 1 | 156136984 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
35 | 0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 | 0.020 | 1.000 | 2 | 1999 | 2012 | ||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.020 | 1.000 | 2 | 2019 | 2019 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.020 | 1.000 | 2 | 1999 | 2007 | |||
|
6 | 0.807 | 0.080 | 4 | 168756335 | non coding transcript exon variant | G/A | snv | 0.44 | 0.020 | 1.000 | 2 | 2007 | 2011 | ||||
|
2 | 0.925 | 0.040 | 11 | 89340157 | frameshift variant | G/- | delins | 0.020 | 1.000 | 2 | 2016 | 2017 | |||||
|
36 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.020 | 1.000 | 2 | 2010 | 2015 | |||
|
8 | 0.790 | 0.120 | 19 | 11113680 | missense variant | G/T | snv | 0.020 | 1.000 | 2 | 2010 | 2013 |