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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv |
|
0.020 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2006 | 2016 | ||||||||
|
0.790 | 0.120 | 17 | 51161744 | missense variant | A/G | snv | 6.0E-05 | 7.0E-05 |
|
0.020 | 1.000 | 2 | 2001 | 2004 | |||||||
|
0.807 | 0.080 | 5 | 143400101 | missense variant | G/A | snv |
|
0.020 | 1.000 | 2 | 2011 | 2013 | |||||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.790 | 0.240 | 1 | 22638945 | synonymous variant | A/G | snv | 0.49 | 0.51 |
|
0.020 | 1.000 | 2 | 2006 | 2010 | |||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
0.020 | 1.000 | 2 | 2005 | 2010 | |||||||
|
0.649 | 0.520 | 20 | 46014472 | missense variant | G/A;C | snv | 0.16 |
|
0.020 | 1.000 | 2 | 2005 | 2007 | ||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.020 | 0.500 | 2 | 2016 | 2019 | ||||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.020 | 1.000 | 2 | 2015 | 2018 | |||||||
|
0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 |
|
0.020 | 1.000 | 2 | 2012 | 2016 | |||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.637 | 0.400 | 8 | 23200707 | missense variant | T/G | snv | 0.15 | 0.14 |
|
0.020 | 1.000 | 2 | 2008 | 2013 | |||||||
|
0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 |
|
0.020 | 1.000 | 2 | 2007 | 2019 | ||||||||
|
0.667 | 0.520 | 20 | 46013767 | missense variant | G/C;T | snv | 0.88; 1.6E-05 |
|
0.020 | 1.000 | 2 | 2005 | 2007 | ||||||||
|
0.925 | 0.080 | 17 | 50072022 | synonymous variant | C/T | snv | 0.17 | 0.19 |
|
0.020 | 1.000 | 2 | 2011 | 2012 | |||||||
|
0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.020 | 1.000 | 2 | 2007 | 2017 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.020 | 1.000 | 2 | 2014 | 2015 | |||||||
|
0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 |
|
0.020 | 0.500 | 2 | 2012 | 2017 | |||||||
|
0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 |
|
0.020 | 1.000 | 2 | 2014 | 2018 | |||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
0.020 | 1.000 | 2 | 2007 | 2009 | |||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
0.020 | < 0.001 | 2 | 2004 | 2005 | |||||||
|
0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 |
|
0.020 | 1.000 | 2 | 2016 | 2016 | ||||||||
|
0.882 | 0.040 | 9 | 14190288 | intron variant | A/T | snv | 0.81 |
|
0.020 | 1.000 | 2 | 2015 | 2019 |