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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.200 | 4 | 184632307 | missense variant | C/G | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.790 | 0.200 | 4 | 184632307 | missense variant | C/G | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 4 | 184632296 | frameshift variant | A/- | del | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.080 | 4 | 184634082 | intron variant | C/A;G;T | snv |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 4 | 184631944 | splice region variant | T/G | snv | 0.64 | 0.73 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 4 | 184631944 | splice region variant | T/G | snv | 0.64 | 0.73 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 184638333 | intron variant | G/C | snv | 0.88 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
4 | 184638333 | intron variant | G/C | snv | 0.88 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
1.000 | 0.120 | 4 | 184646959 | intron variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.160 | 4 | 184648878 | intron variant | C/A | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.160 | 4 | 184648878 | intron variant | C/A | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 4 | 184648878 | intron variant | C/A | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 4 | 184648878 | intron variant | C/A | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 4 | 184648878 | intron variant | C/A | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 4 | 184648647 | intron variant | G/T | snv | 9.5E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 4 | 184648647 | intron variant | G/T | snv | 9.5E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 4 | 184648647 | intron variant | G/T | snv | 9.5E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 4 | 184648647 | intron variant | G/T | snv | 9.5E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 4 | 184648576 | 5 prime UTR variant | C/T | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 4 | 184648576 | 5 prime UTR variant | C/T | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.160 | 4 | 184646777 | intron variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.160 | 4 | 184646777 | intron variant | C/T | snv | 0.16 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.160 | 4 | 184646777 | intron variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 4 | 184629610 | intron variant | T/C | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 4 | 184629610 | intron variant | T/C | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |