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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 19 | 50858501 | missense variant | T/C | snv | 5.5E-02 | 4.9E-02 |
|
0.750 | 0.714 | 5 | 2011 | 2015 | |||||||
|
0.925 | 0.080 | 19 | 50858501 | missense variant | T/C | snv | 5.5E-02 | 4.9E-02 |
|
0.750 | 0.667 | 5 | 2011 | 2015 | |||||||
|
0.925 | 0.080 | 19 | 50860142 | 3 prime UTR variant | C/T | snv | 0.75 | 0.74 |
|
0.720 | 1.000 | 2 | 2008 | 2018 | |||||||
|
0.925 | 0.080 | 19 | 50857584 | non coding transcript exon variant | C/G;T | snv |
|
0.710 | 0.500 | 1 | 2011 | 2015 | |||||||||
|
0.925 | 0.080 | 19 | 50854757 | upstream gene variant | G/A | snv | 0.49 |
|
0.050 | 0.800 | 5 | 2006 | 2018 | ||||||||
|
0.925 | 0.080 | 19 | 50854757 | upstream gene variant | G/A | snv | 0.49 |
|
0.050 | 0.800 | 5 | 2006 | 2018 | ||||||||
|
0.882 | 0.080 | 19 | 50856335 | missense variant | G/A | snv | 4.0E-05 | 2.3E-04 |
|
0.040 | 0.500 | 4 | 2001 | 2008 | |||||||
|
0.882 | 0.080 | 19 | 50856335 | missense variant | G/A | snv | 4.0E-05 | 2.3E-04 |
|
0.040 | 0.750 | 4 | 2000 | 2008 | |||||||
|
0.925 | 0.080 | 19 | 50860142 | 3 prime UTR variant | C/T | snv | 0.75 | 0.74 |
|
0.020 | 1.000 | 2 | 2017 | 2018 | |||||||
|
0.882 | 0.080 | 19 | 50856335 | missense variant | G/A | snv | 4.0E-05 | 2.3E-04 |
|
0.020 | 0.500 | 2 | 2002 | 2005 | |||||||
|
0.882 | 0.080 | 19 | 50856335 | missense variant | G/A | snv | 4.0E-05 | 2.3E-04 |
|
0.020 | 1.000 | 2 | 2000 | 2008 | |||||||
|
0.925 | 0.080 | 19 | 50858126 | missense variant | G/A | snv | 2.4E-02 | 2.5E-02 |
|
0.020 | 1.000 | 2 | 2010 | 2019 | |||||||
|
0.925 | 0.080 | 19 | 50858126 | missense variant | G/A | snv | 2.4E-02 | 2.5E-02 |
|
0.020 | 1.000 | 2 | 2010 | 2019 | |||||||
|
0.925 | 0.080 | 19 | 50860089 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 |
|
0.020 | 1.000 | 2 | 2005 | 2010 | |||||||
|
0.925 | 0.080 | 19 | 50860089 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 |
|
0.020 | 1.000 | 2 | 2005 | 2010 | |||||||
|
1.000 | 0.040 | 19 | 50855373 | 3 prime UTR variant | C/T | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 19 | 50858075 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 19 | 50858075 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 19 | 50858291 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.080 | 19 | 50856263 | missense variant | C/T | snv | 8.0E-05 | 2.8E-04 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 19 | 50856263 | missense variant | C/T | snv | 8.0E-05 | 2.8E-04 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 19 | 50858491 | missense variant | C/A;T | snv | 8.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 19 | 50858491 | missense variant | C/A;T | snv | 8.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.080 | 19 | 50858491 | missense variant | C/A;T | snv | 8.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.080 | 19 | 50858501 | missense variant | T/C | snv | 5.5E-02 | 4.9E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |