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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 16 | 50704069 | intron variant | A/G | snv | 0.68 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 6 | 31303824 | intron variant | A/G | snv | 0.10 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 6 | 32603062 | intergenic variant | A/G | snv | 0.74 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 13 | 43897741 | intron variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.790 | 0.320 | 1 | 206770888 | 5 prime UTR variant | A/G;T | snv | 0.72 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.120 | 1 | 196717522 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 146576497 | intergenic variant | A/T | snv | 8.2E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 102328956 | intron variant | A/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
25 | 0.677 | 0.360 | 4 | 38797027 | missense variant | C/A | snv | 0.53 | 0.51 | 0.020 | 1.000 | 2 | 2010 | 2013 | |||
|
17 | 0.701 | 0.480 | 6 | 31574699 | upstream gene variant | C/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
23 | 0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 5 | 20374104 | intron variant | C/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
56 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 1 | 212700089 | upstream gene variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 13 | 43859494 | intron variant | C/A;T | snv | 0.710 | 1.000 | 3 | 2009 | 2016 | |||||
|
1 | 1.000 | 0.040 | 6 | 162730367 | intron variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2012 | 2013 | |||||
|
4 | 0.882 | 0.200 | 10 | 8073399 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 5 | 159416227 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
16 | 0.708 | 0.440 | 8 | 6877901 | 5 prime UTR variant | C/G;T | snv | 0.79 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 16 | 11358685 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
10 | 0.763 | 0.200 | 9 | 114796423 | intron variant | C/T | snv | 0.73 | 0.810 | 1.000 | 3 | 2009 | 2016 | ||||
|
4 | 0.851 | 0.080 | 16 | 50691282 | upstream gene variant | C/T | snv | 0.38 | 0.710 | 1.000 | 2 | 2009 | 2012 |