| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.400 | 6 | 137681500 | intron variant | C/T | snv | 0.24 |
|
0.880 | 1.000 | 1 | 2007 | 2016 | ||||||||
|
0.925 | 0.120 | 21 | 44289270 | non coding transcript exon variant | G/A | snv | 0.19 |
|
0.860 | 0.833 | 1 | 2011 | 2019 | ||||||||
|
0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 |
|
0.830 | 1.000 | 1 | 2009 | 2017 | ||||||||
|
0.827 | 0.280 | 9 | 120944104 | regulatory region variant | T/A;C | snv |
|
0.830 | 1.000 | 1 | 2007 | 2019 | |||||||||
|
0.763 | 0.360 | 2 | 191105153 | intron variant | G/C | snv | 0.79 |
|
0.820 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.742 | 0.280 | 21 | 42434957 | missense variant | A/C;G | snv | 0.27; 8.0E-06 |
|
0.820 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
0.827 | 0.200 | 22 | 37155567 | intron variant | A/G | snv | 0.36 |
|
0.820 | 1.000 | 1 | 2007 | 2014 | ||||||||
|
0.882 | 0.160 | 12 | 111395984 | intron variant | G/A | snv | 0.67 |
|
0.810 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
1.000 | 0.120 | 7 | 131685280 | intergenic variant | T/C | snv | 0.66 |
|
0.810 | 1.000 | 1 | 2007 | 2009 | ||||||||
|
0.882 | 0.160 | 2 | 60937196 | non coding transcript exon variant | G/A | snv | 0.25 |
|
0.810 | 1.000 | 1 | 2009 | 2012 | ||||||||
|
0.925 | 0.160 | 6 | 32703326 | downstream gene variant | T/C | snv | 0.19 |
|
0.810 | 1.000 | 1 | 2010 | 2018 | ||||||||
|
0.925 | 0.200 | X | 153982797 | synonymous variant | G/A | snv | 0.27 | 0.15 |
|
0.810 | 1.000 | 1 | 2012 | 2017 | |||||||
|
1.000 | 0.120 | 2 | 203829153 | intergenic variant | G/T | snv | 0.55 |
|
0.810 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.120 | 14 | 104924668 | upstream gene variant | C/T | snv | 0.41 |
|
0.810 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.925 | 0.120 | 1 | 116721168 | regulatory region variant | T/A;C | snv |
|
0.810 | 1.000 | 1 | 2013 | 2019 | |||||||||
|
0.695 | 0.360 | 6 | 90267049 | intron variant | G/A | snv | 0.11 |
|
0.810 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
1.000 | 0.120 | 11 | 128627057 | intron variant | C/T | snv | 0.37 |
|
0.810 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
0.925 | 0.200 | 22 | 39351666 | intron variant | T/A | snv | 0.37 |
|
0.810 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
1.000 | 0.120 | 2 | 30226728 | upstream gene variant | G/A | snv | 0.51 |
|
0.800 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
1.000 | 0.120 | 2 | 100056230 | intron variant | C/T | snv | 0.47 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 22 | 30285268 | 3 prime UTR variant | C/A;G;T | snv |
|
0.800 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.120 | 11 | 118858682 | intergenic variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2014 | 2019 | |||||||||
|
0.925 | 0.200 | 10 | 6066377 | upstream gene variant | A/G | snv | 0.40 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
1.000 | 0.120 | 10 | 62025330 | 3 prime UTR variant | G/T | snv | 0.66 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 11 | 118741072 | intron variant | G/A;T | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2012 | 2012 |