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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
1.000 | 0.877 | 81 | 2005 | 2019 | |||||||
|
1.000 | 0.120 | 12 | 120363020 | intron variant | A/G | snv | 0.89 | 0.88 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.240 | 6 | 32179984 | intron variant | T/A;C | snv | 0.89 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.752 | 0.400 | 6 | 31810495 | missense variant | G/A;C;T | snv | 0.87 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.925 | 0.160 | 5 | 157104725 | missense variant | C/A | snv | 0.87 | 0.83 |
|
0.020 | 1.000 | 2 | 2011 | 2019 | |||||||
|
0.882 | 0.240 | 6 | 32443949 | intron variant | G/A | snv | 0.82 | 0.80 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 32741532 | splice region variant | A/G | snv | 0.81 | 0.81 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
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 | 32366464 | intron variant | G/A;T | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.200 | 6 | 31659746 | missense variant | C/T | snv | 0.79 | 0.74 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 31633567 | missense variant | T/C | snv | 0.79 | 0.74 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 31628105 | missense variant | C/A | snv | 0.79 | 0.74 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 32937204 | missense variant | G/A | snv | 0.78 | 0.80 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.120 | 7 | 123616373 | missense variant | C/T | snv | 0.77 | 0.78 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.160 | 6 | 31892560 | splice region variant | T/A;C | snv | 0.77 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.925 | 0.160 | 6 | 31888293 | intron variant | G/A | snv | 0.77 | 0.76 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.160 | 6 | 31896527 | intron variant | G/A;C | snv | 0.77 | 0.76 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
0.882 | 0.160 | 6 | 31961237 | missense variant | A/C | snv | 0.76 | 0.78 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | |||||||
|
1.000 | 0.120 | 6 | 31961022 | intron variant | T/A;C | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.020 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 |
|
0.730 | 0.750 | 4 | 2012 | 2017 | |||||||
|
0.763 | 0.360 | 11 | 117998955 | missense variant | A/G | snv | 0.74 | 0.74 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.120 | 6 | 31272078 | 5 prime UTR variant | C/G;T | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 31270520 | intron variant | C/T | snv | 0.73 | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 3 | 10234479 | missense variant | T/A | snv | 0.73 | 0.70 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |