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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
81 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.080 | 17 | 39922412 | 3 prime UTR variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 16 | 27363275 | synonymous variant | C/T | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 16 | 27362545 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 8 | 78733724 | missense variant | T/C | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 12 | 57747080 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 17 | 40401272 | intron variant | G/A | snv | 9.1E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 7 | 30687161 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
56 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | 15 | 59899786 | intergenic variant | A/C | snv | 3.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.827 | 0.200 | 17 | 3577153 | missense variant | T/C | snv | 0.37 | 0.32 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.080 | 17 | 39990676 | intron variant | T/C | snv | 0.56 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 12 | 117265431 | missense variant | C/T | snv | 5.6E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 17 | 78366809 | intron variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 17 | 39989901 | synonymous variant | T/C | snv | 0.14 | 0.21 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 7 | 85118528 | intron variant | C/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.020 | 1.000 | 2 | 2013 | 2016 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.020 | 1.000 | 2 | 2007 | 2010 | |||
|
61 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.020 | 1.000 | 2 | 2010 | 2018 | ||||
|
2 | 0.925 | 0.080 | 17 | 3566559 | 3 prime UTR variant | A/C | snv | 0.55 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||
|
6 | 0.827 | 0.120 | 20 | 3671095 | synonymous variant | C/A;G | snv | 4.7E-06; 0.29 | 0.020 | 0.500 | 2 | 2015 | 2017 | ||||
|
8 | 0.790 | 0.200 | 11 | 60095631 | missense variant | A/G | snv | 4.7E-02 | 7.3E-02 | 0.020 | 1.000 | 2 | 2009 | 2016 | |||
|
14 | 0.732 | 0.440 | 17 | 39913696 | intron variant | C/T | snv | 0.60 | 0.080 | 1.000 | 8 | 2008 | 2018 | ||||
|
6 | 0.851 | 0.160 | 11 | 65784486 | upstream gene variant | A/G | snv | 0.44 | 0.700 | 1.000 | 3 | 2015 | 2019 |