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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
1.000 | 0.973 | 57 | 2007 | 2019 | ||||||||
|
1.000 | 0.080 | 8 | 117172786 | 3 prime UTR variant | G/A | snv | 0.24 |
|
0.820 | 1.000 | 2 | 2008 | 2019 | ||||||||
|
1.000 | 0.080 | 8 | 117173494 | 3 prime UTR variant | A/G | snv | 0.25 |
|
0.720 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
0.925 | 0.120 | 8 | 117013406 | intron variant | T/A;G | snv |
|
0.710 | 1.000 | 1 | 2011 | 2015 | |||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
0.100 | 1.000 | 11 | 2009 | 2020 | ||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
0.100 | 1.000 | 11 | 2009 | 2020 | ||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
0.070 | 0.714 | 7 | 2008 | 2019 | ||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
0.060 | 1.000 | 6 | 2009 | 2018 | ||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
0.030 | 1.000 | 3 | 2014 | 2017 | ||||||||
|
1.000 | 0.080 | 8 | 117153084 | stop gained | C/T | snv | 2.4E-04 | 9.8E-05 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | |||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 8 | 117172545 | missense variant | G/A;C;T | snv | 1.5E-02; 2.0E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 8 | 117173699 | 3 prime UTR variant | A/G | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 8 | 117173699 | 3 prime UTR variant | A/G | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 8 | 117172786 | 3 prime UTR variant | G/A | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |