| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.240 | 17 | 43092418 | missense variant | T/C;G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.080 | 17 | 43097246 | splice region variant | G/A | snv | 1.5E-03 | 1.2E-03 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.080 | 17 | 43070958 | missense variant | C/T | snv | 1.8E-02 | 1.4E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.160 | 17 | 43093010 | missense variant | G/A | snv | 1.7E-03 | 1.4E-03 |
|
0.010 | 1.000 | 1 | 1996 | 1996 | |||||||
|
0.925 | 0.080 | 17 | 43074471 | missense variant | C/A | snv | 2.4E-03 | 2.4E-03 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.851 | 0.160 | 17 | 43047676 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.080 | 17 | 43115753 | missense variant | G/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.160 | 17 | 43104197 | synonymous variant | A/C | snv | 8.0E-06 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 17 | 43095890 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 17 | 43093245 | missense variant | T/A;C | snv | 1.4E-04 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 17 | 43093471 | missense variant | T/G | snv | 4.0E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 17 | 43091951 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.120 | 17 | 43082287 | intron variant | C/T | snv | 6.9E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 17 | 43063912 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.280 | 17 | 43092919 | frameshift variant | G/AA | delins |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.882 | 0.080 | 17 | 43092674 | frameshift variant | AA/- | delins |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.851 | 0.200 | 17 | 43076573 | stop gained | G/A | snv |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||||
|
0.882 | 0.080 | 17 | 43070984 | stop gained | C/A | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.790 | 0.280 | 17 | 43051071 | missense variant | A/C;T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 17 | 43092125 | missense variant | G/A;T | snv | 4.0E-06; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 17 | 43051093 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.080 | 17 | 43093454 | missense variant | C/A;T | snv | 5.8E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 17 | 43071031 | missense variant | A/G | snv | 1.5E-03 | 9.6E-04 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.763 | 0.280 | 17 | 43063931 | missense variant | G/A;T | snv | 2.4E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 17 | 43094075 | missense variant | A/G;T | snv | 2.8E-04; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 |