| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.070 | 0.571 | 7 | 2008 | 2018 | |||||||||
|
0.882 | 0.040 | 8 | 105437494 | intron variant | -/TTTTCT | delins | 0.43 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 7 | 55147325 | intron variant | A/C | snv | 0.51 |
|
0.040 | 0.750 | 4 | 2012 | 2017 | ||||||||
|
1.000 | 0.040 | 11 | 118618067 | intron variant | A/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 8 | 39721376 | intron variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.080 | 14 | 32823537 | synonymous variant | A/C | snv | 0.60 | 0.65 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 14 | 103699345 | intron variant | A/C | snv | 7.1E-03 | 2.2E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.827 | 0.040 | 4 | 110632961 | missense variant | A/C | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 15 | 55254859 | intron variant | A/C | snv | 0.66 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.040 | 15 | 37098156 | missense variant | A/C | snv | 1.3E-04 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 16 | 24576962 | downstream gene variant | A/C | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv |
|
0.900 | 0.952 | 21 | 2009 | 2020 | |||||||||
|
1.000 | 0.040 | 3 | 66452557 | intron variant | A/C;G | snv |
|
0.710 | 1.000 | 2 | 2017 | 2018 | |||||||||
|
0.925 | 0.080 | 3 | 20119604 | missense variant | A/C;G | snv | 4.0E-06; 3.3E-02 |
|
0.010 | < 0.001 | 1 | 2000 | 2000 | ||||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.100 | 1.000 | 18 | 2011 | 2020 | ||||||||
|
1.000 | 0.040 | 1 | 108150714 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.080 | 12 | 950115 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 3 | 49358221 | missense variant | A/C;T | snv | 6.8E-06; 6.8E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 10 | 87864514 | missense variant | A/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.080 | 8 | 129633446 | intron variant | A/G | snv | 3.9E-02 |
|
0.760 | 1.000 | 9 | 2013 | 2019 | ||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.080 | 1.000 | 8 | 2009 | 2019 | |||||||
|
0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 |
|
0.060 | 1.000 | 6 | 2010 | 2018 | |||||||
|
0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 |
|
0.050 | 1.000 | 5 | 2011 | 2016 | |||||||
|
0.742 | 0.400 | 9 | 22043927 | intron variant | A/G | snv | 0.28 |
|
0.810 | 1.000 | 4 | 2009 | 2016 |