| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.240 | 2 | 29220831 | missense variant | A/C;G;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2017 | |||||||||
|
0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.080 | 10 | 44370393 | 3 prime UTR variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.752 | 0.240 | 17 | 7674257 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 |
|
0.040 | 1.000 | 4 | 2015 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 108364109 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.790 | 0.160 | 5 | 308981 | non coding transcript exon variant | A/C;T | snv |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.080 | 1 | 1163962 | upstream gene variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.090 | 0.889 | 9 | 2011 | 2019 | |||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.090 | 1.000 | 9 | 2010 | 2017 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.080 | 1.000 | 8 | 2004 | 2017 | |||||||
|
0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 |
|
0.030 | 1.000 | 3 | 2011 | 2019 | |||||||
|
0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
1.000 | 0.080 | 7 | 87539293 | missense variant | A/G | snv | 6.4E-05 | 1.0E-04 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 4 | 113625548 | intron variant | A/G | snv | 0.18 |
|
0.710 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.320 | 1 | 12207208 | 3 prime UTR variant | A/G | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 12 | 20892760 | intron variant | A/G | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.120 | 18 | 24477006 | missense variant | A/G | snv | 8.6E-02 | 7.6E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 3 | 3108583 | 5 prime UTR variant | A/G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |