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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 29621347 | intron variant | C/G | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 5 | 157086333 | 3 prime UTR variant | G/A | snv | 0.79 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
6 | 154157868 | 3 prime UTR variant | T/C | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.827 | 0.080 | 6 | 154039561 | missense variant | C/A;G;T | snv | 4.1E-06; 1.7E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 22 | 19942586 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 3 | 114181373 | intron variant | A/G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.120 | 2 | 112840530 | non coding transcript exon variant | G/A | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.708 | 0.160 | 18 | 48927093 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.742 | 0.280 | 19 | 15879621 | missense variant | C/T | snv | 0.27 | 0.22 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.742 | 0.360 | 3 | 10286769 | missense variant | T/A | snv | 0.10 | 6.6E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 |
|
0.040 | 1.000 | 4 | 2004 | 2010 | |||||||
|
0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |