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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 1 | 152310672 | stop gained | G/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 1 | 152313145 | missense variant | T/A | snv | 7.8E-03 | 8.0E-03 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.120 | 1 | 152304939 | stop gained | G/C;T | snv | 4.7E-04; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.280 | 12 | 57109992 | 5 prime UTR variant | C/T | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 1 | 152354040 | missense variant | T/C | snv | 1.6E-02 | 6.1E-02 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.120 | 4 | 122576542 | intergenic variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.827 | 0.320 | 3 | 190308865 | intron variant | G/T | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 5 | 148072009 | intron variant | A/G | snv | 3.2E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 5 | 148112898 | synonymous variant | T/C | snv | 4.5E-02 | 3.5E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.120 | 5 | 148086438 | missense variant | G/A | snv | 4.6E-02 | 3.2E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.080 | 3 | 3103687 | intron variant | A/T | snv | 3.9E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.732 | 0.360 | 8 | 6877909 | 5 prime UTR variant | C/T | snv | 0.36 | 0.41 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.742 | 0.360 | 14 | 24510132 | upstream gene variant | C/T | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.708 | 0.440 | 8 | 6877901 | 5 prime UTR variant | C/G;T | snv | 0.79 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.683 | 0.520 | 16 | 27362859 | missense variant | T/C | snv | 0.16 | 0.22 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 1 | 152310342 | stop gained | G/C;T | snv | 8.0E-06; 1.7E-04 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.742 | 0.280 | 21 | 42434957 | missense variant | A/C;G | snv | 0.27; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.160 | 5 | 111072304 | intron variant | C/T | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 5 | 65792557 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 1 | 67315434 | intron variant | A/G | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.732 | 0.280 | 11 | 76588150 | upstream gene variant | G/T | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 5 | 132648366 | intron variant | A/G | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 19 | 8679120 | downstream gene variant | C/A;G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 3 | 32954436 | synonymous variant | C/T | snv | 0.25 | 0.23 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 |