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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 12 | 47857143 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.120 | 5 | 143399842 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.120 | 21 | 45525860 | missense variant | A/G | snv | 2.4E-03 | 2.2E-03 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.120 | 7 | 99778046 | missense variant | T/C;G | snv | 7.6E-05 | 6.3E-05 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.882 | 0.120 | 5 | 143400541 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.120 | 5 | 143314010 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.120 | 6 | 18149120 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.776 | 0.240 | 8 | 92005229 | missense variant | C/A | snv | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.120 | 19 | 54982407 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.200 | 9 | 127800446 | intron variant | C/T | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 12 | 11894684 | 3 prime UTR variant | T/C | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.732 | 0.240 | 11 | 32396399 | synonymous variant | T/C | snv | 0.24; 4.0E-06 | 0.17 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.120 | 4 | 141788570 | intergenic variant | T/C | snv | 7.7E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 6 | 108620265 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.695 | 0.480 | 16 | 28503907 | missense variant | A/C;T | snv | 6.4E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.240 | 6 | 18143724 | missense variant | C/G | snv | 1.7E-03 | 2.0E-03 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.790 | 0.120 | 4 | 85766908 | intron variant | A/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.120 | 7 | 87544938 | missense variant | G/C;T | snv | 4.0E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.790 | 0.240 | 1 | 11795191 | missense variant | C/A;G | snv | 1.8E-04 | 2.0E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.752 | 0.240 | 22 | 28695800 | missense variant | T/A;C;G | snv | 2.4E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.653 | 0.480 | 19 | 48234449 | missense variant | A/T | snv | 0.33 | 0.29 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.752 | 0.320 | 22 | 41152004 | missense variant | A/G | snv | 0.31 | 0.23 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |