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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.120 | 2 | 202556360 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.040 | 1.000 | 4 | 2010 | 2016 | ||||||||
|
0.925 | 0.080 | 12 | 5043783 | upstream gene variant | C/T | snv | 0.88 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.080 | 2 | 202518890 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.080 | 2 | 202518890 | frameshift variant | AG/T | delins |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.683 | 0.320 | 17 | 80385145 | missense variant | G/A;C | snv | 2.6E-04; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.040 | 7 | 151010603 | stop gained | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 2 | 202552774 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 11 | 1017655 | missense variant | G/A | snv | 4.0E-02 | 3.0E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 12 | 51912437 | missense variant | C/T | snv | 8.4E-02 | 7.7E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.807 | 0.200 | 19 | 43670636 | upstream gene variant | C/T | snv | 0.80 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 6 | 30922159 | missense variant | C/T | snv | 1.9E-04 | 7.7E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.040 | 2 | 69400462 | missense variant | C/A | snv | 1.5E-04 | 1.2E-04 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
1.000 | 0.040 | 9 | 127825812 | missense variant | C/T | snv | 8.8E-03 | 9.9E-03 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.701 | 0.440 | 6 | 137874586 | intron variant | C/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.763 | 0.240 | 4 | 153704799 | missense variant | C/A | snv | 2.8E-02 | 2.8E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.724 | 0.360 | 11 | 65498698 | non coding transcript exon variant | A/G | snv | 5.9E-02 | 3.3E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.732 | 0.280 | 17 | 30222880 | 5 prime UTR variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 11 | 17407404 | missense variant | C/T | snv | 3.2E-05 | 4.9E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.080 | 15 | 67187472 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.160 | 10 | 88941310 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 |