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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.030 | 1.000 | 3 | 2009 | 2016 | |||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.020 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||||
|
0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.649 | 0.440 | 12 | 53968051 | non coding transcript exon variant | G/A | snv | 0.93 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 |
|
0.020 | 0.500 | 2 | 2003 | 2015 | |||||||
|
0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |