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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.790 | 0.280 | 10 | 88316086 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.080 | 6 | 39302834 | intron variant | C/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.080 | 8 | 54414531 | intergenic variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.925 | 0.080 | 9 | 128833128 | 3 prime UTR variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 11 | 27706555 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
18 | 0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
15 | 0.763 | 0.360 | 12 | 111681367 | intron variant | T/C | snv | 5.8E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 15 | 74942269 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
10 | 0.882 | 0.080 | 12 | 57133500 | intron variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 5 | 3756587 | intergenic variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
27 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 16 | 55485623 | synonymous variant | G/C | snv | 0.31 | 0.26 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
23 | 0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 14 | 94464768 | missense variant | A/G | snv | 0.78 | 0.71 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 19 | 29580124 | intergenic variant | C/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
10 | 0.827 | 0.200 | 5 | 170383792 | missense variant | C/T | snv | 9.9E-02 | 8.7E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 1.000 | 0.080 | 5 | 179108712 | downstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.882 | 0.280 | 9 | 6248035 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.120 | 19 | 38455359 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
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 | ||||
|
2 | 1.000 | 0.040 | 5 | 59039089 | 5 prime UTR variant | A/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
5 | 0.882 | 0.080 | 9 | 84668501 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.120 | 2 | 188972572 | upstream gene variant | A/G | snv | 7.8E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 1 | 115113069 | regulatory region variant | C/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 1.000 | 0.080 | 1 | 62726106 | regulatory region variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2011 | 2011 |