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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.040 | 0.750 | 4 | 2013 | 2017 | ||||
|
8 | 0.827 | 0.120 | X | 15599938 | intron variant | A/G | snv | 0.19 | 0.040 | 1.000 | 4 | 2014 | 2019 | ||||
|
3 | 0.925 | 0.080 | X | 15579386 | intron variant | C/T | snv | 3.9E-02 | 0.030 | 1.000 | 3 | 2018 | 2019 | ||||
|
4 | 0.882 | 0.160 | X | 15572684 | intron variant | C/G | snv | 0.030 | 1.000 | 3 | 2018 | 2019 | |||||
|
12 | 0.882 | 0.120 | 12 | 89666809 | intron variant | G/A | snv | 0.15 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
2 | 0.925 | 0.120 | 7 | 151001791 | intron variant | A/G | snv | 0.58 | 0.56 | 0.020 | 1.000 | 2 | 2013 | 2014 | |||
|
2 | 1.000 | 0.040 | 2 | 27079693 | intron variant | G/A | snv | 0.37 | 0.020 | 1.000 | 2 | 2009 | 2010 | ||||
|
9 | 0.827 | 0.160 | X | 15564667 | intron variant | C/T | snv | 0.40 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
2 | 0.925 | 0.120 | 7 | 151004695 | intron variant | G/A | snv | 0.35 | 0.020 | 0.500 | 2 | 2013 | 2014 | ||||
|
4 | 0.925 | 0.080 | X | 15568841 | intron variant | C/T | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
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 | 2 | 237907946 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.040 | 1 | 16054087 | intron variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 15 | 29326124 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 1 | 59896030 | intron variant | A/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 140563980 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.040 | 3 | 148725481 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.925 | 0.040 | 17 | 45130754 | intron variant | A/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 2 | 102357669 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.040 | 16 | 56867019 | intron variant | C/T | snv | 0.10 | 0.13 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 12 | 4378431 | intron variant | G/C | snv | 3.3E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.160 | 19 | 15886754 | intron variant | G/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 17 | 66792709 | intron variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 4 | 24797878 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 5 | 32714555 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2015 | 2015 |