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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 2 | 215408182 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 2 | 215422370 | intron variant | A/G | snv | 0.77 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.200 | 2 | 215428270 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.200 | 2 | 215428270 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.200 | 2 | 215433372 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.120 | 2 | 215406438 | missense variant | G/A;T | snv | 2.0E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
2 | 215375861 | intron variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
1.000 | 0.040 | 2 | 215397898 | intron variant | A/C | snv | 0.61 | 0.61 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 2 | 215433387 | missense variant | A/C;T | snv | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 2 | 215431961 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 2 | 215391428 | intron variant | T/A | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 |
|
0.020 | 1.000 | 2 | 2007 | 2011 | ||||||||
|
0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 |
|
0.020 | 1.000 | 2 | 2006 | 2011 | ||||||||
|
1.000 | 0.080 | 2 | 215408367 | missense variant | T/A;C | snv | 2.2E-04; 4.0E-06 |
|
0.020 | 1.000 | 2 | 1997 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 215399334 | missense variant | T/C | snv | 4.0E-06 | 2.1E-05 |
|
0.020 | 1.000 | 2 | 1997 | 2012 | |||||||
|
1.000 | 0.040 | 2 | 215422370 | intron variant | A/G | snv | 0.77 |
|
0.030 | 1.000 | 3 | 2013 | 2019 | ||||||||
|
0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 |
|
0.030 | 1.000 | 3 | 2007 | 2016 |