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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 1 | 209706871 | intron variant | -/A | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
38 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.030 | 1.000 | 3 | 2014 | 2018 | |||
|
5 | 0.851 | 0.160 | X | 129655744 | upstream gene variant | A/C | snv | 0.11 | 0.020 | 0.500 | 2 | 2010 | 2016 | ||||
|
8 | 0.790 | 0.360 | 6 | 160249250 | missense variant | A/C | snv | 0.90 | 0.89 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 1.000 | 0.040 | 10 | 44379373 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 1 | 42153468 | synonymous variant | A/C;G;T | snv | 6.4E-05; 0.21; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.040 | 5 | 32786283 | missense variant | A/C;G;T | snv | 0.21 | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 1.000 | 0.040 | 1 | 16052230 | missense variant | A/C;T | snv | 8.0E-06; 9.6E-02 | 0.030 | 0.667 | 3 | 2004 | 2011 | ||||
|
2 | 1.000 | 0.040 | 21 | 46194555 | missense variant | A/C;T | snv | 0.66; 1.6E-05 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
4 | 0.882 | 0.120 | 2 | 237858561 | upstream gene variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.100 | 0.795 | 39 | 1993 | 2014 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.909 | 11 | 2004 | 2018 | |||
|
8 | 0.827 | 0.120 | X | 15599938 | intron variant | A/G | snv | 0.19 | 0.040 | 1.000 | 4 | 2014 | 2019 | ||||
|
17 | 0.724 | 0.320 | 10 | 114044277 | missense variant | A/G | snv | 0.15 | 0.17 | 0.030 | 0.667 | 3 | 2009 | 2018 | |||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.030 | 1.000 | 3 | 1999 | 2018 | |||
|
4 | 0.925 | 0.040 | 1 | 46932824 | missense variant | A/G | snv | 0.17 | 0.20 | 0.020 | 1.000 | 2 | 2008 | 2017 | |||
|
2 | 0.925 | 0.120 | 7 | 151001791 | intron variant | A/G | snv | 0.58 | 0.56 | 0.020 | 1.000 | 2 | 2013 | 2014 | |||
|
4 | 0.925 | 0.120 | X | 15583220 | intron variant | A/G | snv | 9.1E-02 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | X | 116173577 | 3 prime UTR variant | A/G | snv | 0.020 | 0.500 | 2 | 2006 | 2014 | |||||
|
4 | 0.882 | 0.160 | 8 | 26770618 | missense variant | A/G | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2016 | ||||
|
3 | 0.925 | 0.040 | 10 | 44370528 | 3 prime UTR variant | A/G | snv | 5.4E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
39 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.080 | 5 | 474952 | missense variant | A/G | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.040 | 1 | 78536904 | 3 prime UTR variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2015 | 2015 |