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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 |
|
0.820 | 1.000 | 2 | 1999 | 2019 | ||||||||
|
0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv |
|
0.800 | 1.000 | 2 | 1999 | 2001 | |||||||||
|
0.672 | 0.320 | 8 | 142680513 | 5 prime UTR variant | C/T | snv | 0.46 | 0.45 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | |||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
0.800 | 1.000 | 2 | 1999 | 2001 | ||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.800 | 0 | ||||||||||||
|
0.851 | 0.120 | 4 | 1732512 | intron variant | T/C | snv | 0.76 |
|
0.770 | 0.889 | 3 | 2010 | 2017 | ||||||||
|
0.776 | 0.240 | 8 | 127705823 | intron variant | G/A;T | snv |
|
0.760 | 1.000 | 4 | 2008 | 2015 | |||||||||
|
0.851 | 0.200 | 3 | 189928144 | intergenic variant | T/C | snv | 0.24 |
|
0.740 | 1.000 | 4 | 2008 | 2018 | ||||||||
|
0.882 | 0.120 | 2 | 233656637 | intron variant | A/C;T | snv |
|
0.730 | 0.750 | 2 | 2010 | 2015 | |||||||||
|
0.882 | 0.120 | 18 | 45729946 | 5 prime UTR variant | C/A;T | snv |
|
0.730 | 1.000 | 1 | 2011 | 2014 | |||||||||
|
0.882 | 0.120 | 22 | 38936618 | regulatory region variant | C/T | snv | 0.55 |
|
0.720 | 1.000 | 2 | 2010 | 2016 | ||||||||
|
0.827 | 0.240 | 8 | 18415371 | regulatory region variant | G/A | snv | 0.71 |
|
0.720 | 1.000 | 2 | 2010 | 2016 | ||||||||
|
0.882 | 0.120 | 19 | 29805946 | regulatory region variant | T/C | snv | 0.24 |
|
0.720 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 |
|
0.720 | 1.000 | 1 | 2014 | 2019 | |||||||
|
0.882 | 0.120 | 18 | 45737317 | intron variant | T/C | snv | 0.61 |
|
0.710 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 |
|
0.710 | 0.667 | 2 | 2010 | 2014 | ||||||||
|
0.925 | 0.120 | 20 | 10981287 | intron variant | C/A | snv | 0.19 |
|
0.710 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.763 | 0.280 | 4 | 1804362 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 1999 | 2001 | ||||||||
|
0.882 | 0.200 | 8 | 127707639 | intron variant | A/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 12 | 38045401 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.120 | 6 | 20766466 | intron variant | C/A | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 20 | 11010490 | intron variant | T/C | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 8 | 81074718 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.120 | 20 | 11007451 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.120 | 18 | 45737001 | intron variant | T/C | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2011 | 2011 |