| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 2 | 165749801 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.120 | 10 | 62655424 | missense variant | A/C;G | snv | 0.80 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.020 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 |
|
0.020 | 1.000 | 2 | 2001 | 2016 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.882 | 0.120 | 1 | 156135271 | missense variant | A/G | snv | 4.8E-04 | 1.6E-04 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 15 | 90537155 | intron variant | A/G | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 156115240 | missense variant | A/G | snv | 2.5E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.807 | 0.160 | 10 | 111079821 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 5 | 96429259 | missense variant | C/A;T | snv | 4.0E-06; 2.1E-03 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.040 | 0.750 | 4 | 2010 | 2016 | |||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.020 | 1.000 | 2 | 2007 | 2014 | |||||||
|
0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.732 | 0.440 | 8 | 19962213 | stop gained | C/G | snv | 9.2E-02 | 9.0E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.807 | 0.240 | 19 | 7166365 | synonymous variant | C/G;T | snv | 4.0E-06; 0.26 |
|
0.020 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.020 | 1.000 | 2 | 2006 | 2018 | |||||||
|
0.752 | 0.320 | 6 | 35411001 | 5 prime UTR variant | C/T | snv | 0.78 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |