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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.020 | < 0.001 | 2 | 2016 | 2019 | |||||
|
20 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 0.020 | < 0.001 | 2 | 2013 | 2017 | |||||
|
19 | 0.716 | 0.440 | 11 | 46719773 | missense variant | G/A;T | snv | 4.5E-06; 4.5E-06 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
60 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
5 | 0.882 | 0.120 | 3 | 148719716 | intron variant | T/A;C | snv | 0.89 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
8 | 0.807 | 0.160 | 15 | 67166301 | intron variant | T/C | snv | 0.21 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.200 | 4 | 110787733 | intergenic variant | G/A | snv | 0.15 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
11 | 0.776 | 0.240 | 13 | 113118731 | missense variant | G/A;C | snv | 4.8E-05; 4.0E-06 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
29 | 0.653 | 0.480 | 19 | 48234449 | missense variant | A/T | snv | 0.33 | 0.29 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
10 | 0.790 | 0.200 | 7 | 30452621 | missense variant | C/T | snv | 0.27 | 0.28 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
1 | 16 | 55505279 | intron variant | C/G | snv | 0.50 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||
|
5 | 0.882 | 0.120 | 3 | 148697758 | upstream gene variant | A/G | snv | 0.20 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
23 | 0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
51 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
97 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
2 | 1.000 | 0.080 | 2 | 197766990 | intron variant | G/A | snv | 0.73 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
61 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 7 | 95324637 | upstream gene variant | T/C | snv | 0.72 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.160 | 16 | 55505702 | 3 prime UTR variant | A/C | snv | 0.37 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 9 | 133268647 | intron variant | A/T | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
2 | 1.000 | 0.080 | 5 | 60401476 | intron variant | C/T | snv | 0.36 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 3 | 173767581 | intron variant | C/T | snv | 0.62 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||
|
12 | 0.732 | 0.280 | 9 | 22083405 | intron variant | C/G;T | snv | 0.020 | 0.500 | 2 | 2012 | 2013 | |||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.020 | 0.500 | 2 | 2000 | 2014 |