| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 16 | 50710912 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
1.000 | 0.040 | 16 | 50711298 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
1.000 | 0.040 | 16 | 50712282 | missense variant | C/T | snv | 5.2E-05 | 8.4E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.040 | 16 | 50716599 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.040 | 16 | 50716670 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.040 | 16 | 50716670 | frameshift variant | C/- | del |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
1.000 | 0.040 | 16 | 50707883 | missense variant | T/C | snv |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||||
|
0.851 | 0.160 | 16 | 50732975 | 3 prime UTR variant | G/A | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.040 | 16 | 50712177 | missense variant | C/T | snv | 1.6E-05 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.040 | 16 | 50723350 | missense variant | A/C;G | snv | 1.7E-04; 4.4E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.080 | 16 | 50712383 | 3 prime UTR variant | A/C | snv | 1.3E-02 | 1.4E-02 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.040 | 16 | 50711546 | synonymous variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.240 | 16 | 50699557 | missense variant | G/C | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.040 | 16 | 50710831 | missense variant | C/T | snv | 1.0E-04 | 7.0E-05 |
|
0.020 | 1.000 | 2 | 2006 | 2006 | |||||||
|
0.925 | 0.040 | 16 | 50711664 | synonymous variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.040 | 1.000 | 4 | 2005 | 2008 | |||||||
|
0.827 | 0.040 | 16 | 50710812 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.100 | 1.000 | 13 | 2007 | 2019 | ||||||||
|
0.790 | 0.200 | 16 | 50710807 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 |
|
0.100 | 0.917 | 12 | 2004 | 2017 | |||||||
|
1.000 | 0.040 | 16 | 50699883 | missense variant | T/C | snv | 1.3E-04 | 5.6E-05 |
|
0.700 | 1.000 | 6 | 2001 | 2016 | |||||||
|
1.000 | 0.040 | 16 | 50710614 | missense variant | C/T | snv | 1.0E-04 | 1.3E-04 |
|
0.700 | 1.000 | 6 | 2001 | 2016 | |||||||
|
1.000 | 0.040 | 16 | 50710654 | missense variant | T/G | snv | 5.6E-04 | 2.6E-04 |
|
0.700 | 1.000 | 6 | 2001 | 2016 | |||||||
|
1.000 | 0.040 | 16 | 50710782 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 |
|
0.700 | 1.000 | 6 | 2001 | 2016 | |||||||
|
1.000 | 0.040 | 16 | 50710792 | missense variant | C/G | snv | 1.9E-03 | 1.5E-03 |
|
0.700 | 1.000 | 6 | 2001 | 2016 | |||||||
|
1.000 | 0.040 | 16 | 50710813 | missense variant | C/T | snv | 4.4E-05 | 4.2E-05 |
|
0.700 | 1.000 | 6 | 2001 | 2016 | |||||||
|
1.000 | 0.040 | 16 | 50710842 | missense variant | C/A;T | snv | 5.9E-04 |
|
0.700 | 1.000 | 6 | 2001 | 2016 | ||||||||
|
1.000 | 0.040 | 16 | 50711028 | missense variant | C/T | snv | 1.8E-04 | 2.1E-04 |
|
0.700 | 1.000 | 6 | 2001 | 2016 |