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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.790 | 0.240 | 10 | 43086608 | intron variant | T/C | snv | 0.79 | 0.900 | 0.923 | 13 | 2011 | 2019 | ||||
|
3 | 0.882 | 0.080 | 8 | 32553698 | intron variant | C/T | snv | 0.10 | 0.850 | 0.833 | 6 | 2009 | 2019 | ||||
|
3 | 0.882 | 0.160 | 10 | 43086825 | intron variant | A/C;T | snv | 0.050 | 1.000 | 5 | 2011 | 2015 | |||||
|
2 | 0.925 | 0.080 | 8 | 32553981 | intron variant | G/A;C;T | snv | 0.050 | 0.800 | 5 | 2014 | 2019 | |||||
|
2 | 0.925 | 0.080 | 2 | 85587861 | intron variant | C/T | snv | 0.53 | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||
|
4 | 0.851 | 0.120 | 2 | 85589211 | intron variant | A/G | snv | 0.81 | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||
|
3 | 0.925 | 0.080 | 8 | 32543983 | intron variant | T/G | snv | 0.39 | 0.700 | 1.000 | 2 | 2014 | 2016 | ||||
|
8 | 0.807 | 0.120 | 10 | 81889983 | intron variant | T/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.160 | 10 | 81883883 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 10 | 116183122 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 5 | 113339402 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | X | 71147478 | intron variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 10 | 43238858 | intron variant | T/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 13 | 86134644 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 7 | 130684771 | intron variant | A/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 2 | 50063015 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
29 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 8 | 28554946 | intron variant | A/T | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 10 | 43114918 | intron variant | G/A;T | snv | 0.83 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 10 | 43109502 | intron variant | A/G | snv | 0.79 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 10 | 43080177 | intron variant | T/G | snv | 0.80 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 10 | 43239327 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 3 | 45767003 | intron variant | C/A;T | snv | 0.55 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 10 | 43088808 | intron variant | T/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 10 | 43087702 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 |