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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 1 | 221723183 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 1 | 221893194 | intron variant | C/T | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 1 | 22882367 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.080 | 1 | 186672715 | 3 prime UTR variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | 1 | 45332028 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.080 | 1 | 22909025 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.120 | 1 | 45332794 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 1 | 44758123 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.790 | 0.360 | 1 | 11792243 | intron variant | C/G;T | snv | 4.0E-06; 0.26 | 0.23 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 1 | 97740400 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 11800285 | synonymous variant | G/T | snv | 9.9E-05 | 1.9E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 1 | 13779144 | missense variant | G/A | snv | 2.8E-02 | 1.5E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.160 | 1 | 97515865 | missense variant | C/T | snv | 1.5E-02 | 1.4E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.807 | 0.240 | 1 | 97305364 | missense variant | C/T | snv | 4.7E-02 | 3.9E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.763 | 0.280 | 1 | 97883329 | missense variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.240 | 1 | 11795191 | missense variant | C/A;G | snv | 1.8E-04 | 2.0E-04 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 1 | 186680288 | start lost | C/T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.851 | 0.120 | 1 | 183138564 | non coding transcript exon variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 1 | 24917276 | intron variant | A/G | snv | 0.45 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.200 | 1 | 160882256 | non coding transcript exon variant | T/C | snv | 0.65 | 0.58 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 |