| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.160 | 7 | 27202740 | non coding transcript exon variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 1 | 186675946 | missense variant | A/C;G;T | snv | 4.0E-06; 4.5E-03; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 |
|
0.020 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 6 | 159691552 | 3 prime UTR variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.925 | 0.080 | 22 | 21833371 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.870 | 23 | 2005 | 2018 | |||||||
|
0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 |
|
0.100 | 1.000 | 16 | 2010 | 2019 | |||||||
|
0.724 | 0.360 | 13 | 102845848 | 5 prime UTR variant | A/G | snv | 0.76 |
|
0.100 | 0.833 | 12 | 2012 | 2019 | ||||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.060 | 1.000 | 6 | 2014 | 2016 | |||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.050 | 0.800 | 5 | 2009 | 2014 | |||||||
|
0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 |
|
0.040 | 1.000 | 4 | 2014 | 2016 | ||||||||
|
0.716 | 0.360 | 6 | 52187772 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 |
|
0.040 | 1.000 | 4 | 2010 | 2018 | |||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.040 | 1.000 | 4 | 2011 | 2019 | ||||||||
|
0.882 | 0.080 | 5 | 60949318 | intron variant | A/G | snv | 0.15 |
|
0.030 | 1.000 | 3 | 2015 | 2018 | ||||||||
|
0.790 | 0.240 | 4 | 102597148 | intron variant | A/G | snv | 0.31 |
|
0.030 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
0.742 | 0.360 | 1 | 223111186 | missense variant | A/G | snv | 0.39 | 0.34 |
|
0.030 | 1.000 | 3 | 2011 | 2019 | |||||||
|
0.827 | 0.120 | 2 | 25269598 | intron variant | A/G | snv | 0.31 |
|
0.020 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.827 | 0.160 | 8 | 127088680 | non coding transcript exon variant | A/G | snv | 1.7E-02 |
|
0.020 | 1.000 | 2 | 2017 | 2019 |