| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 8 | 31085179 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.776 | 0.240 | 8 | 31141764 | missense variant | G/A;T | snv | 8.0E-06; 0.45 | 0.46 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.827 | 0.240 | 8 | 31064419 | missense variant | G/A | snv | 5.8E-02 | 7.8E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.080 | 8 | 31141764 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.080 | 3 | 39091696 | missense variant | A/T | snv | 4.2E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 10 | 102824175 | intron variant | A/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 8 | 125061429 | intron variant | G/A | snv | 2.8E-02 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.716 | 0.160 | 10 | 112559621 | intron variant | C/T | snv | 3.1E-02 |
|
0.720 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
0.716 | 0.160 | 10 | 112520943 | intron variant | T/C | snv | 0.13 |
|
0.720 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.752 | 0.160 | 10 | 112709306 | intron variant | A/T | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.763 | 0.160 | 10 | 112738717 | intron variant | G/A | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 6 | 43785588 | 3 prime UTR variant | G/A | snv | 8.6E-02 |
|
0.020 | 1.000 | 2 | 2014 | 2017 | ||||||||
|
0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2017 | |||||||||
|
0.701 | 0.480 | 6 | 43785475 | 3 prime UTR variant | A/G | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 6 | 43785314 | 3 prime UTR variant | C/T | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.080 | 6 | 43770762 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 |
|
0.030 | 1.000 | 3 | 2013 | 2019 | |||||||
|
0.672 | 0.480 | 12 | 47908762 | intron variant | C/T | snv | 0.38 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.925 | 0.080 | 12 | 47883930 | intron variant | C/T | snv | 0.20 |
|
0.020 | 0.500 | 2 | 2012 | 2014 | ||||||||
|
0.827 | 0.200 | 12 | 47841134 | downstream gene variant | C/T | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 12 | 47884227 | intron variant | A/C;G;T | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2013 | 2013 |