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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.900 | 0.966 | 29 | 2005 | 2019 | ||||||||
|
0.807 | 0.120 | 13 | 28018505 | missense variant | C/A;G;T | snv |
|
0.740 | 1.000 | 22 | 2001 | 2019 | |||||||||
|
0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 |
|
0.800 | 1.000 | 21 | 2010 | 2019 | ||||||||
|
0.882 | 0.120 | 13 | 28018504 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 17 | 2001 | 2014 | |||||||||
|
0.708 | 0.320 | 15 | 90088702 | missense variant | C/A;T | snv | 3.2E-05 |
|
0.780 | 1.000 | 16 | 2010 | 2019 | ||||||||
|
0.925 | 0.120 | 13 | 28018503 | missense variant | A/C;T | snv |
|
0.800 | 1.000 | 15 | 2001 | 2014 | |||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.740 | 1.000 | 13 | 1987 | 2017 | ||||||||
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.760 | 0.923 | 13 | 2009 | 2019 | ||||||||
|
0.732 | 0.240 | 11 | 32396399 | synonymous variant | T/C | snv | 0.24; 4.0E-06 | 0.17 |
|
0.100 | 1.000 | 13 | 2011 | 2018 | |||||||
|
0.689 | 0.200 | 15 | 90088606 | missense variant | C/A;T | snv |
|
0.720 | 1.000 | 12 | 2010 | 2016 | |||||||||
|
0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv |
|
0.100 | 1.000 | 11 | 1998 | 2019 | |||||||||
|
0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv |
|
0.100 | 1.000 | 11 | 1998 | 2019 | |||||||||
|
0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv |
|
0.740 | 1.000 | 10 | 2009 | 2016 | |||||||||
|
1.000 | 0.040 | 13 | 28018502 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 9 | 2005 | 2013 | |||||||||
|
0.925 | 0.120 | 13 | 28018500 | missense variant | G/C | snv |
|
0.710 | 1.000 | 9 | 2003 | 2014 | |||||||||
|
0.827 | 0.240 | 2 | 25234374 | missense variant | G/A;C;T | snv | 1.2E-04; 8.0E-06 |
|
0.710 | 1.000 | 9 | 2010 | 2016 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.080 | 0.875 | 8 | 2003 | 2019 | |||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.710 | 1.000 | 7 | 1987 | 2016 | |||||||||
|
0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 7 | 1987 | 2016 | |||||||||
|
1.000 | 0.040 | 11 | 32396363 | frameshift variant | -/ACCGTACA | ins |
|
0.700 | 1.000 | 6 | 2014 | 2014 | |||||||||
|
0.763 | 0.240 | 4 | 54733174 | missense variant | T/A;G | snv |
|
0.750 | 1.000 | 6 | 2006 | 2013 | |||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 6 | 1987 | 2014 | ||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.060 | 0.833 | 6 | 2006 | 2019 | ||||||||
|
0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 6 | 1987 | 2016 | ||||||||
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 5 | 1987 | 2012 |