| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 |
|
1.000 | 0.940 | 83 | 2001 | 2018 | |||||||
|
0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 |
|
1.000 | 0.949 | 78 | 2001 | 2019 | ||||||||
|
0.716 | 0.400 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 1.5E-02 |
|
0.890 | 0.923 | 13 | 2005 | 2019 | ||||||||
|
0.763 | 0.200 | 16 | 50710713 | missense variant | C/A;T | snv | 4.0E-06; 0.19 |
|
0.790 | 1.000 | 10 | 2002 | 2014 | ||||||||
|
0.790 | 0.200 | 16 | 50710807 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 |
|
0.100 | 0.917 | 12 | 2004 | 2017 | |||||||
|
0.807 | 0.200 | 16 | 50729868 | frameshift variant | C/-;CC | delins |
|
0.830 | 1.000 | 8 | 2007 | 2017 | |||||||||
|
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 | ||||||||
|
0.827 | 0.120 | 16 | 50728860 | intron variant | T/C | snv | 1.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 16 | 50716899 | missense variant | A/G | snv | 1.2E-03 | 7.5E-04 |
|
0.720 | < 0.001 | 2 | 2014 | 2018 | |||||||
|
0.851 | 0.160 | 16 | 50732975 | 3 prime UTR variant | G/A | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.240 | 16 | 50699557 | missense variant | G/C | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.040 | 16 | 50722970 | intron variant | A/G | snv | 0.17 |
|
0.830 | 1.000 | 9 | 2007 | 2019 | ||||||||
|
0.882 | 0.080 | 16 | 50712085 | missense variant | C/G | snv | 3.2E-03 | 1.3E-02 |
|
0.700 | 1.000 | 6 | 2001 | 2016 | |||||||
|
0.882 | 0.120 | 16 | 50710912 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.882 | 0.160 | 16 | 50732216 | splice donor variant | A/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
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 | 50711664 | synonymous variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.040 | 1.000 | 4 | 2005 | 2008 | |||||||
|
0.925 | 0.120 | 16 | 50729867 | missense variant | G/A;C | snv | 4.0E-06; 1.5E-02 | 7.0E-06 |
|
0.700 | 1.000 | 4 | 2007 | 2012 | |||||||
|
0.925 | 0.120 | 16 | 50729868 | frameshift variant | C/-;CC | delins |
|
0.700 | 1.000 | 4 | 2007 | 2012 | |||||||||
|
0.925 | 0.040 | 16 | 50705671 | intron variant | C/G | snv | 0.20 |
|
0.810 | 1.000 | 3 | 2007 | 2017 | ||||||||
|
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 | 50711288 | synonymous variant | C/A;T | snv | 0.19 |
|
0.710 | 1.000 | 2 | 2006 | 2010 | ||||||||
|
0.925 | 0.040 | 16 | 50723365 | missense variant | G/A | snv | 6.3E-02 | 6.0E-02 |
|
0.710 | 1.000 | 2 | 2007 | 2008 | |||||||
|
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 |