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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.800 | 0.973 | 257 | 1997 | 2019 | |||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.800 | 0.991 | 105 | 1996 | 2019 | |||||||
|
0.882 | 0.080 | 1 | 146018399 | missense variant | C/A | snv | 1.7E-04 | 2.7E-04 |
|
0.720 | 1.000 | 2 | 2004 | 2005 | |||||||
|
0.807 | 0.120 | 3 | 133765185 | intron variant | G/A | snv | 0.31 |
|
0.710 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 |
|
0.100 | 0.947 | 19 | 1999 | 2019 | |||||||
|
0.672 | 0.360 | 6 | 29944350 | missense variant | G/A | snv |
|
0.080 | 1.000 | 8 | 1997 | 2013 | |||||||||
|
0.763 | 0.200 | 22 | 37084836 | missense variant | C/T | snv | 6.4E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
0.763 | 0.200 | 22 | 37086414 | missense variant | T/C | snv | 5.2E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2014 | |||||||
|
0.827 | 0.200 | 6 | 26092952 | missense variant | T/C | snv | 8.4E-04 | 5.6E-04 |
|
0.020 | 1.000 | 2 | 2002 | 2012 | |||||||
|
0.807 | 0.240 | 6 | 29942870 | missense variant | G/C;T | snv |
|
0.020 | 1.000 | 2 | 1998 | 2002 | |||||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.020 | 1.000 | 2 | 2012 | 2013 | |||||||
|
0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
0.827 | 0.160 | 12 | 50992283 | synonymous variant | A/G | snv | 0.17 | 0.15 |
|
0.010 | < 0.001 | 1 | 2000 | 2000 | |||||||
|
0.776 | 0.240 | 6 | 26092916 | missense variant | A/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.827 | 0.160 | 6 | 26092760 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 1 | 203171152 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.080 | 19 | 35284995 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.882 | 0.120 | X | 55021095 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
1.000 | 0.080 | 10 | 30451716 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
1.000 | 0.080 | 6 | 26092897 | missense variant | G/A;C | snv | 3.6E-03 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 1 | 146018454 | missense variant | C/T | snv | 2.9E-04 | 5.2E-04 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.827 | 0.200 | 7 | 100641071 | missense variant | G/A;C | snv | 4.2E-06; 8.3E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 6 | 26092834 | missense variant | G/A | snv | 5.6E-05 | 1.4E-05 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 |