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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 13 | 27968819 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.080 | 1 | 155185239 | intron variant | G/A | snv | 0.55 | 0.030 | 1.000 | 3 | 2011 | 2017 | ||||
|
4 | 0.925 | 0.080 | 10 | 94292754 | intron variant | C/T | snv | 7.8E-02 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
3 | 0.925 | 0.080 | 5 | 40795766 | intron variant | C/T | snv | 0.69 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
2 | 0.925 | 0.080 | 17 | 8205021 | synonymous variant | G/A | snv | 0.66 | 0.64 | 0.020 | 1.000 | 2 | 2016 | 2019 | |||
|
2 | 0.925 | 0.080 | 17 | 8207446 | intron variant | C/A | snv | 0.54 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
2 | 0.925 | 0.080 | 10 | 29602392 | intron variant | T/C | snv | 0.48 | 0.48 | 0.020 | 1.000 | 2 | 2012 | 2017 | |||
|
2 | 0.925 | 0.080 | 2 | 25345310 | upstream gene variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2012 | 2016 | |||||
|
4 | 0.925 | 0.080 | 20 | 32762102 | upstream gene variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2012 | 2016 | |||||
|
2 | 0.925 | 0.080 | 5 | 40765760 | intron variant | A/C | snv | 2.7E-03 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
2 | 0.925 | 0.080 | 1 | 46177421 | intron variant | A/G | snv | 0.22 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
2 | 0.925 | 0.080 | 20 | 56382507 | intron variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2017 | 2019 | |||||
|
2 | 0.925 | 0.080 | 4 | 16075214 | intron variant | A/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 5 | 1427996 | intron variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 8 | 41264249 | 3 prime UTR variant | C/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 17 | 7676391 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.080 | 19 | 17818178 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 11 | 13388251 | 3 prime UTR variant | A/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 8 | 89933370 | 3 prime UTR variant | C/T | snv | 3.0E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 5 | 80057163 | intron variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 17 | 80966057 | 3 prime UTR variant | T/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 1 | 11228701 | missense variant | G/A;T | snv | 0.75; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 10 | 113729891 | 3 prime UTR variant | T/G | snv | 0.38 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 11 | 1263382 | downstream gene variant | G/A | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 19 | 57231104 | 5 prime UTR variant | G/A;C;T | snv | 0.87; 3.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 |