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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.100 | 0.818 | 11 | 2012 | 2015 | ||||
|
10 | 0.752 | 0.440 | 6 | 32762235 | intron variant | A/G;T | snv | 0.880 | 0.909 | 11 | 2011 | 2017 | |||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.050 | 1.000 | 5 | 2015 | 2020 | ||||
|
7 | 0.790 | 0.280 | 1 | 10325413 | intron variant | A/G | snv | 0.24 | 0.730 | 0.750 | 4 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 33070989 | intron variant | C/A;T | snv | 0.700 | 1.000 | 3 | 2009 | 2013 | |||||
|
2 | 0.925 | 0.080 | 6 | 33077781 | intron variant | G/A | snv | 0.32 | 0.710 | 0.667 | 3 | 2009 | 2016 | ||||
|
1 | 1.000 | 0.080 | 6 | 33073257 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
2 | 0.925 | 0.200 | 6 | 33079254 | intron variant | T/C | snv | 0.37 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
10 | 0.763 | 0.200 | 3 | 46370444 | intron variant | A/G | snv | 0.49 | 0.020 | 1.000 | 2 | 2011 | 2018 | ||||
|
48 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 0.020 | 1.000 | 2 | 2012 | 2019 | |||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.020 | 1.000 | 2 | 2012 | 2019 | ||||
|
12 | 0.752 | 0.360 | 4 | 122617757 | intron variant | C/T | snv | 0.77 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
3 | 0.882 | 0.160 | 5 | 157158243 | intron variant | T/C | snv | 0.42 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
3 | 0.882 | 0.280 | 6 | 33093172 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
2 | 0.925 | 0.120 | 5 | 157198268 | intron variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2014 | 2019 | |||||
|
3 | 0.925 | 0.120 | 22 | 21619030 | intron variant | C/A;T | snv | 0.18 | 0.820 | 1.000 | 2 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.080 | 22 | 21566528 | intron variant | G/C | snv | 0.18 | 0.710 | 1.000 | 2 | 2013 | 2019 | ||||
|
5 | 0.827 | 0.320 | 6 | 33082502 | intron variant | A/G | snv | 0.40 | 0.710 | 1.000 | 2 | 2013 | 2013 | ||||
|
12 | 0.752 | 0.440 | 13 | 108269025 | intron variant | C/T | snv | 0.35 | 0.020 | 0.500 | 2 | 2017 | 2019 | ||||
|
8 | 0.776 | 0.400 | 2 | 191071078 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 6 | 33069898 | intron variant | C/A | snv | 0.23 | 0.32 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.925 | 0.120 | 7 | 90689160 | intron variant | G/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 6 | 100690714 | intron variant | C/T | snv | 2.5E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.160 | 5 | 149732603 | intron variant | A/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 173201479 | intron variant | C/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2012 | 2012 |