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 | 0.080 | 16 | 55499358 | intron variant | A/G | snv | 0.26 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 17 | 58280438 | missense variant | G/A;T | snv |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.752 | 0.400 | 20 | 32779273 | intron variant | G/A;C;T | snv |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 16 | 55484698 | intron variant | C/A;G;T | snv |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.701 | 0.440 | 3 | 186842993 | intron variant | G/A | snv | 0.38 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 4 | 177298634 | intron variant | C/T | snv | 0.23 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.763 | 0.480 | 3 | 186856375 | 3 prime UTR variant | T/A;C | snv |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.160 | 15 | 74735539 | intergenic variant | C/T | snv | 0.16 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||||
|
0.752 | 0.200 | 7 | 45921046 | missense variant | G/A;C;T | snv | 0.38 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
0.925 | 0.080 | 5 | 33998663 | missense variant | C/A | snv | 0.13 | 0.11 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.701 | 0.280 | 8 | 89971232 | missense variant | G/A;C | snv | 2.5E-03 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 6 | 52797630 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.080 | 8 | 16143592 | synonymous variant | G/A | snv |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||||
|
0.925 | 0.080 | 9 | 78304854 | missense variant | C/T | snv | 2.1E-05 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 17 | 65536247 | intron variant | C/T | snv | 5.3E-02 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.160 | 7 | 17244953 | intron variant | T/C | snv | 0.54 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.240 | 16 | 1079010 | missense variant | C/A | snv | 3.7E-02 | 3.7E-02 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.851 | 0.080 | 9 | 76763591 | intron variant | G/A | snv | 0.32 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 |