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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.160 | 22 | 41667677 | downstream gene variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.080 | 20 | 7831703 | downstream gene variant | T/C | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.240 | 6 | 29643654 | intergenic variant | C/T | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.701 | 0.240 | 14 | 53944201 | downstream gene variant | T/C | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
5 | 40887679 | intergenic variant | A/G | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.742 | 0.200 | 14 | 36180040 | upstream gene variant | C/T | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.925 | 0.080 | 2 | 168995422 | missense variant | T/C | snv | 8.1E-06 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.080 | 16 | 48224287 | missense variant | C/G;T | snv | 4.0E-06; 0.22 | 0.13 |
|
0.020 | 0.500 | 2 | 2011 | 2019 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.120 | 10 | 70753879 | missense variant | C/A;G | snv | 0.23 | 0.19 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.160 | 10 | 70760503 | missense variant | C/T | snv | 8.6E-02 | 7.5E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.020 | 1.000 | 2 | 2006 | 2019 | ||||||||
|
0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 |
|
0.020 | 1.000 | 2 | 2015 | 2015 | ||||||||
|
0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.040 | 1.000 | 4 | 2008 | 2016 | ||||||||
|
0.752 | 0.200 | 12 | 111783219 | missense variant | G/A | snv | 6.8E-05 | 7.7E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.763 | 0.240 | 2 | 29220831 | missense variant | A/C;G;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2019 | |||||||||
|
0.776 | 0.200 | 2 | 29220829 | missense variant | G/C;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2019 | |||||||||
|
0.827 | 0.120 | 2 | 29209798 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 |