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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.653 | 0.480 | 11 | 69648142 | splice region variant | G/A | snv | 0.45 | 0.39 |
|
0.040 | 1.000 | 4 | 2009 | 2018 | |||||||
|
0.653 | 0.480 | 11 | 69648142 | splice region variant | G/A | snv | 0.45 | 0.39 |
|
0.040 | 1.000 | 4 | 2009 | 2018 | |||||||
|
0.653 | 0.480 | 11 | 69648142 | splice region variant | G/A | snv | 0.45 | 0.39 |
|
0.040 | 1.000 | 4 | 2009 | 2018 | |||||||
|
0.732 | 0.440 | 11 | 69648142 | splice region variant | G/A | snv |
|
0.020 | 1.000 | 2 | 2017 | 2019 | |||||||||
|
0.925 | 0.080 | 11 | 69641336 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 11 | 69641336 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.120 | 11 | 69639167 | upstream gene variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
11 | 69648711 | intron variant | GG/-;G | delins | 0.44 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.732 | 0.440 | 11 | 69648142 | splice region variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.732 | 0.440 | 11 | 69648142 | splice region variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.732 | 0.440 | 11 | 69648142 | splice region variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.732 | 0.440 | 11 | 69648142 | splice region variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.732 | 0.440 | 11 | 69648142 | splice region variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.732 | 0.440 | 11 | 69648142 | splice region variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.732 | 0.440 | 11 | 69648142 | splice region variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.732 | 0.440 | 11 | 69648142 | splice region variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.732 | 0.440 | 11 | 69648142 | splice region variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.732 | 0.440 | 11 | 69648142 | splice region variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.732 | 0.440 | 11 | 69648142 | splice region variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.732 | 0.440 | 11 | 69648142 | splice region variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 11 | 69651969 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 11 | 69651969 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 11 | 69651969 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 11 | 69651969 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 11 | 69651969 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 |