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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.925 | 0.080 | 11 | 27706992 | intron variant | A/C | snv | 0.83 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.160 | 6 | 28515705 | missense variant | A/C | snv | 0.38 | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.020 | 1.000 | 2 | 2018 | 2018 | |||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.020 | 1.000 | 2 | 2000 | 2015 | |||
|
12 | 0.763 | 0.280 | 1 | 65621409 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 74504631 | intron variant | A/G | snv | 0.67 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 28526550 | intron variant | A/G | snv | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 19 | 1101993 | upstream gene variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 19 | 1103466 | upstream gene variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 7 | 95319437 | intron variant | A/G | snv | 0.78 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.925 | 0.200 | 20 | 56248749 | 5 prime UTR variant | C/A | snv | 0.14 | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.080 | 6 | 110873500 | upstream gene variant | C/A;G | snv | 0.80 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.120 | 7 | 106285307 | intron variant | C/A;T | snv | 0.76 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.776 | 0.280 | 7 | 151005693 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.160 | 4 | 155208030 | non coding transcript exon variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.030 | 1.000 | 3 | 2009 | 2018 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2009 | 2016 | |||||
|
4 | 1.000 | 0.080 | 3 | 52825614 | intron variant | C/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.790 | 0.440 | 10 | 67903362 | intron variant | C/G | snv | 0.64 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
15 | 0.752 | 0.320 | 16 | 55478465 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
48 | 0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 |