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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.280 | 2 | 136115399 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 |
|
0.050 | 1.000 | 5 | 2001 | 2012 | ||||||||
|
0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2002 | 2014 | ||||||||
|
0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2001 | 2011 | ||||||||
|
0.732 | 0.320 | 2 | 136115340 | synonymous variant | C/T | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2006 | 2015 | ||||||||
|
0.752 | 0.240 | 2 | 136115514 | synonymous variant | G/A | snv | 4.6E-02 | 3.5E-02 |
|
0.020 | 1.000 | 2 | 2009 | 2015 | |||||||
|
0.752 | 0.240 | 2 | 136115514 | synonymous variant | G/A | snv | 4.6E-02 | 3.5E-02 |
|
0.020 | 1.000 | 2 | 2009 | 2015 | |||||||
|
0.752 | 0.240 | 2 | 136115514 | synonymous variant | G/A | snv | 4.6E-02 | 3.5E-02 |
|
0.020 | 1.000 | 2 | 2009 | 2018 | |||||||
|
0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2013 | 2013 | ||||||||
|
0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 |
|
0.020 | 0.500 | 2 | 2012 | 2015 | ||||||||
|
0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2013 | 2013 | ||||||||
|
0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 |
|
0.020 | 0.500 | 2 | 2015 | 2019 | ||||||||
|
0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 |
|
0.020 | 0.500 | 2 | 2012 | 2015 | ||||||||
|
0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
0.752 | 0.280 | 2 | 136115399 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 |
|
0.020 | 1.000 | 2 | 2008 | 2012 | ||||||||
|
0.752 | 0.280 | 2 | 136115399 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 |
|
0.020 | 1.000 | 2 | 2008 | 2012 | ||||||||
|
0.732 | 0.320 | 2 | 136115340 | synonymous variant | C/T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
1.000 | 0.040 | 2 | 136115639 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.882 | 0.080 | 2 | 136115450 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.080 | 2 | 136115450 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.080 | 2 | 136115450 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.752 | 0.240 | 2 | 136115514 | synonymous variant | G/A | snv | 4.6E-02 | 3.5E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.752 | 0.240 | 2 | 136115514 | synonymous variant | G/A | snv | 4.6E-02 | 3.5E-02 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 |