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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 |
|
0.020 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 |
|
0.020 | 0.500 | 2 | 2015 | 2019 | ||||||||
|
0.827 | 0.240 | 5 | 132680652 | intron variant | ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/- | del |
|
0.020 | < 0.001 | 2 | 2016 | 2018 | |||||||||
|
0.882 | 0.280 | 5 | 132679856 | missense variant | G/A | snv | 6.8E-05 | 2.8E-05 |
|
0.020 | 1.000 | 2 | 2000 | 2008 | |||||||
|
1.000 | 0.080 | 5 | 132679782 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 5 | 132674079 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | 5 | 132679759 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 5 | 132679827 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
1.000 | 0.120 | 5 | 132679861 | missense variant | G/A | snv | 3.2E-05 | 8.4E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.080 | 5 | 132679748 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.080 | 5 | 132679748 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |