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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.900 | 0.902 | 4 | 1997 | 2018 | |||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.700 | 1.000 | 3 | 2012 | 2018 | |||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.360 | 3 | 12311699 | intron variant | C/G | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.160 | 3 | 12434111 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 2000 | 2014 | ||||||||
|
0.851 | 0.160 | 3 | 12353341 | intron variant | C/T | snv | 0.26 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | ||||||||
|
0.851 | 0.160 | 3 | 12433900 | missense variant | C/T | snv |
|
0.800 | 1.000 | 2 | 2002 | 2002 | |||||||||
|
0.851 | 0.160 | 3 | 12353341 | intron variant | C/T | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 3 | 12295008 | intron variant | G/A | snv | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 3 | 12295008 | intron variant | G/A | snv | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 3 | 12295008 | intron variant | G/A | snv | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 3 | 12311472 | intron variant | C/G | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 3 | 12299426 | intron variant | T/C | snv | 4.0E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 3 | 12298768 | intron variant | C/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 3 | 12293492 | intron variant | G/A | snv | 0.59 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.882 | 0.080 | 3 | 12417048 | missense variant | T/A | snv |
|
0.800 | 1.000 | 2 | 2002 | 2002 | |||||||||
|
1.000 | 0.080 | 3 | 12288284 | intron variant | C/T | snv | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 3 | 12288912 | 5 prime UTR variant | G/A | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 3 | 12288912 | 5 prime UTR variant | G/A | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |