| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.200 | 6 | 32816899 | missense variant | C/A;T | snv | 4.1E-06; 6.2E-02 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.851 | 0.240 | 6 | 32443746 | intron variant | T/A;C | snv | 0.51 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.827 | 0.160 | 13 | 42581032 | intron variant | G/A;C | snv |
|
0.030 | 0.333 | 3 | 2010 | 2019 | |||||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.030 | 0.667 | 3 | 2006 | 2018 | ||||||||
|
1.000 | 0.120 | 6 | 33006624 | 3 prime UTR variant | G/C;T | snv |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||||
|
0.752 | 0.360 | 17 | 39884510 | intergenic variant | G/A;T | snv |
|
0.810 | 1.000 | 3 | 2010 | 2012 | |||||||||
|
0.827 | 0.280 | 6 | 32446496 | downstream gene variant | T/A;C | snv |
|
0.800 | 1.000 | 3 | 2007 | 2016 | |||||||||
|
0.882 | 0.240 | 6 | 32369909 | missense variant | A/G;T | snv | 0.81 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 32252908 | upstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||||
|
0.827 | 0.360 | 6 | 31664357 | missense variant | C/A;T | snv | 0.15; 4.0E-06 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.882 | 0.160 | 6 | 32408196 | upstream gene variant | C/A;T | snv |
|
0.800 | 1.000 | 3 | 2007 | 2014 | |||||||||
|
0.827 | 0.280 | 6 | 32405921 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||||
|
0.882 | 0.160 | 6 | 31892560 | splice region variant | T/A;C | snv | 0.77 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.851 | 0.200 | 11 | 36503743 | intron variant | C/G;T | snv |
|
0.720 | 0.667 | 3 | 2012 | 2019 | |||||||||
|
1.000 | 0.120 | 6 | 32286877 | intron variant | A/G | snv |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||||
|
0.851 | 0.160 | 6 | 137922602 | regulatory region variant | C/G;T | snv |
|
0.800 | 1.000 | 3 | 2012 | 2019 | |||||||||
|
0.925 | 0.120 | 1 | 116721168 | regulatory region variant | T/A;C | snv |
|
0.810 | 1.000 | 3 | 2013 | 2019 | |||||||||
|
0.742 | 0.400 | 6 | 32460508 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.030 | 0.667 | 3 | 2010 | 2019 | ||||||||
|
0.925 | 0.200 | 21 | 35343463 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 3 | 2012 | 2016 | |||||||||
|
0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 |
|
0.020 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 |
|
0.020 | 0.500 | 2 | 2009 | 2017 | ||||||||
|
0.851 | 0.280 | X | 154013378 | missense variant | G/A | snv | 0.67 |
|
0.020 | 0.500 | 2 | 2010 | 2017 | ||||||||
|
0.752 | 0.360 | 6 | 29830972 | 3 prime UTR variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2020 | |||||||||
|
1.000 | 0.120 | 11 | 118858682 | intergenic variant | A/G;T | snv |
|
0.800 | 1.000 | 2 | 2014 | 2019 |