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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
0.020 | 1.000 | 2 | 2008 | 2014 | |||||||
|
1.000 | 0.080 | 8 | 42339015 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.752 | 0.200 | 7 | 45921046 | missense variant | G/A;C;T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.120 | 21 | 43072117 | missense variant | C/G;T | snv | 8.1E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.120 | 1 | 236835605 | missense variant | A/G | snv | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 1 | 45333489 | missense variant | G/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.120 | 21 | 43066293 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.120 | 1 | 45334495 | missense variant | G/A | snv | 1.1E-03 | 4.9E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.672 | 0.320 | 8 | 142680513 | 5 prime UTR variant | C/T | snv | 0.46 | 0.45 |
|
0.800 | 0.971 | 31 | 2009 | 2019 | |||||||
|
0.724 | 0.240 | 8 | 142681514 | 3 prime UTR variant | G/A | snv | 0.46 | 0.45 |
|
0.100 | 0.909 | 11 | 2009 | 2019 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.100 | 0.900 | 10 | 2009 | 2015 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.080 | 0.875 | 8 | 2009 | 2015 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.080 | 0.875 | 8 | 2009 | 2015 | |||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.050 | 0.800 | 5 | 2009 | 2014 | |||||||
|
0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 |
|
0.050 | 0.800 | 5 | 2009 | 2018 | |||||||
|
0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 |
|
0.030 | 0.667 | 3 | 2009 | 2017 | |||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.030 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
0.790 | 0.240 | 13 | 102862735 | missense variant | G/A;C | snv | 4.3E-02 |
|
0.020 | 1.000 | 2 | 2009 | 2017 | ||||||||
|
0.851 | 0.120 | 12 | 112452972 | intron variant | A/G | snv | 0.21 |
|
0.020 | 0.500 | 2 | 2009 | 2016 | ||||||||
|
0.716 | 0.400 | 15 | 81285798 | missense variant | C/T | snv | 0.17 | 0.11 |
|
0.020 | 1.000 | 2 | 2009 | 2016 | |||||||
|
0.627 | 0.480 | 3 | 9756778 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 |
|
0.020 | 1.000 | 2 | 2009 | 2010 | |||||||
|
0.701 | 0.480 | 6 | 43785475 | 3 prime UTR variant | A/G | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |