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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.763 | 0.440 | 1 | 247435768 | intron variant | T/C | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.440 | 1 | 247435768 | intron variant | T/C | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 247423230 | missense variant | G/C;T | snv | 4.0E-06 |
|
0.040 | 1.000 | 4 | 2015 | 2019 | ||||||||
|
0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.763 | 0.440 | 1 | 247435768 | intron variant | T/C | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.240 | 1 | 247436999 | intron variant | A/C | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.200 | 1 | 247417907 | intron variant | T/C | snv | 0.26 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.240 | 1 | 247436999 | intron variant | A/C | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.200 | 1 | 247419919 | intron variant | C/T | snv | 0.83 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.440 | 1 | 247435768 | intron variant | T/C | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 1 | 247423957 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.925 | 0.120 | 1 | 247444692 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 1 | 247424369 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.807 | 0.280 | 1 | 247424041 | missense variant | G/A;C | snv | 8.3E-03; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.040 | 1 | 247434206 | missense variant | G/A | snv | 8.4E-05 | 6.3E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.807 | 0.280 | 1 | 247424041 | missense variant | G/A;C | snv | 8.3E-03; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1 | 247438293 | intron variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 1 | 247425505 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1 | 247438293 | intron variant | T/C | snv | 0.58 |
|
0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||||
|
1 | 247449260 | 3 prime UTR variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 247439006 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |