Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 8 | 22691277 | synonymous variant | G/A;T | snv | 4.0E-06; 9.6E-02 |
|
0.030 | 1.000 | 3 | 2010 | 2012 | ||||||||
|
1.000 | 0.040 | 12 | 117307284 | intron variant | C/T | snv | 0.11 |
|
0.030 | 1.000 | 3 | 2008 | 2017 | ||||||||
|
0.882 | 0.040 | 20 | 10303770 | intron variant | A/G | snv | 0.34 |
|
0.030 | 1.000 | 3 | 2009 | 2020 | ||||||||
|
1.000 | 0.040 | 7 | 150974126 | intron variant | C/A;T | snv |
|
0.030 | 1.000 | 3 | 2010 | 2019 | |||||||||
|
1.000 | 0.040 | 5 | 79738839 | missense variant | C/G;T | snv | 0.10; 2.0E-05 |
|
0.030 | 0.667 | 3 | 2014 | 2018 | ||||||||
|
1.000 | 0.040 | 12 | 108899544 | 3 prime UTR variant | A/G | snv | 0.34 |
|
0.030 | 0.667 | 3 | 2008 | 2017 | ||||||||
|
0.827 | 0.040 | 12 | 2240418 | intron variant | G/A;C | snv |
|
0.830 | 1.000 | 3 | 2012 | 2018 | |||||||||
|
0.851 | 0.040 | 10 | 103016151 | intron variant | G/A | snv | 0.40 |
|
0.830 | 1.000 | 3 | 2011 | 2020 | ||||||||
|
0.882 | 0.040 | 5 | 63965502 | intron variant | C/T | snv | 0.58 |
|
0.020 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
0.925 | 0.040 | 5 | 79799594 | missense variant | C/T | snv | 8.7E-02 | 8.2E-02 |
|
0.020 | 1.000 | 2 | 2011 | 2019 | |||||||
|
1.000 | 0.040 | 6 | 15633201 | intron variant | T/A;C | snv |
|
0.020 | 1.000 | 2 | 2010 | 2014 | |||||||||
|
0.882 | 0.040 | 6 | 15656839 | intron variant | G/A | snv | 0.16 |
|
0.020 | 1.000 | 2 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 1 | 66311907 | intron variant | A/T | snv | 0.37 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.925 | 0.040 | 21 | 33028155 | 3 prime UTR variant | C/A | snv | 0.41 |
|
0.020 | 1.000 | 2 | 2008 | 2020 | ||||||||
|
1.000 | 0.040 | 11 | 117831975 | intron variant | C/T | snv | 0.34 |
|
0.020 | 1.000 | 2 | 2007 | 2011 | ||||||||
|
1.000 | 0.040 | 11 | 113418460 | intron variant | T/C | snv | 0.16 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.882 | 0.040 | 11 | 27674363 | intron variant | C/A;G | snv |
|
0.020 | 1.000 | 2 | 2016 | 2016 | |||||||||
|
0.827 | 0.040 | 10 | 103146454 | intron variant | T/C | snv | 7.9E-02 |
|
0.820 | 1.000 | 2 | 2011 | 2017 | ||||||||
|
1.000 | 0.040 | 5 | 175439295 | downstream gene variant | A/G | snv | 0.61 |
|
0.020 | 1.000 | 2 | 2010 | 2017 | ||||||||
|
1.000 | 0.040 | 13 | 111267603 | missense variant | A/G | snv | 3.2E-05 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2007 | 2016 | |||||||
|
1.000 | 0.040 | 17 | 7414479 | missense variant | G/A | snv |
|
0.020 | 1.000 | 2 | 2017 | 2018 | |||||||||
|
0.851 | 0.040 | 2 | 184936178 | missense variant | A/T | snv | 0.66 | 0.59 |
|
0.020 | 1.000 | 2 | 2014 | 2018 | |||||||
|
1.000 | 0.040 | 10 | 112971038 | intron variant | A/G | snv | 0.30 |
|
0.020 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
1.000 | 0.040 | 7 | 86798310 | intron variant | G/A | snv | 8.9E-02 |
|
0.720 | 0.900 | 2 | 2014 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 184937516 | missense variant | C/A;T | snv | 0.59; 4.1E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2016 |