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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.841 | 44 | 1999 | 2019 | |||||||
|
0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 |
|
0.900 | 0.893 | 26 | 2011 | 2019 | ||||||||
|
0.752 | 0.200 | 1 | 232008852 | missense variant | A/T | snv | 0.26 | 0.29 |
|
0.100 | 0.818 | 22 | 2005 | 2018 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.684 | 19 | 2005 | 2020 | |||||||||
|
1.000 | 0.040 | 1 | 231966518 | intron variant | G/A | snv | 0.49 |
|
0.080 | 0.875 | 8 | 2005 | 2018 | ||||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.760 | 1.000 | 6 | 2008 | 2017 | |||||||
|
0.827 | 0.080 | 1 | 231818355 | missense variant | C/T | snv | 0.11 | 0.14 |
|
0.060 | 1.000 | 6 | 2008 | 2019 | |||||||
|
0.925 | 0.080 | 1 | 167933841 | intron variant | G/T | snv | 0.20 |
|
0.850 | 0.800 | 5 | 2011 | 2018 | ||||||||
|
0.882 | 0.080 | 1 | 231694549 | missense variant | G/A | snv | 0.30 | 0.26 |
|
0.050 | 0.600 | 5 | 2006 | 2018 | |||||||
|
0.807 | 0.080 | 1 | 11801287 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.040 | 1.000 | 4 | 2008 | 2017 | |||||||
|
0.708 | 0.200 | 1 | 19666020 | synonymous variant | C/T | snv | 0.15; 8.0E-06 | 0.16 |
|
0.040 | 0.250 | 4 | 1999 | 2012 | |||||||
|
0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv |
|
0.040 | 1.000 | 4 | 2009 | 2012 | |||||||||
|
0.827 | 0.120 | 1 | 36859876 | missense variant | A/C;G | snv | 0.27; 9.2E-05 |
|
0.040 | 0.750 | 4 | 2002 | 2010 | ||||||||
|
0.925 | 0.080 | 1 | 186830478 | intron variant | G/A | snv | 0.40 |
|
0.030 | 0.667 | 3 | 2009 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 66320247 | intron variant | A/G | snv | 0.47 |
|
0.030 | 1.000 | 3 | 2008 | 2016 | ||||||||
|
1.000 | 0.040 | 1 | 241566754 | intron variant | C/T | snv | 0.28 |
|
0.030 | 0.667 | 3 | 2006 | 2014 | ||||||||
|
1.000 | 0.040 | 1 | 66311907 | intron variant | A/T | snv | 0.37 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.925 | 0.120 | 1 | 162254796 | intron variant | A/C;T | snv |
|
0.020 | 1.000 | 2 | 2009 | 2018 | |||||||||
|
0.882 | 0.160 | 1 | 231761122 | intron variant | C/T | snv | 0.19 |
|
0.020 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 |
|
0.020 | 0.500 | 2 | 2010 | 2017 | |||||||
|
0.807 | 0.080 | 1 | 31626924 | missense variant | A/G | snv | 0.56 | 0.50 |
|
0.020 | 1.000 | 2 | 2005 | 2007 | |||||||
|
0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 |
|
0.020 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.925 | 0.120 | 1 | 232037092 | 3 prime UTR variant | G/A | snv | 3.1E-02 |
|
0.020 | 0.500 | 2 | 2015 | 2018 | ||||||||
|
1.000 | 0.040 | 1 | 21459575 | intron variant | C/T | snv | 0.38 |
|
0.020 | < 0.001 | 2 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 1 | 66335081 | intron variant | A/G;T | snv |
|
0.020 | 1.000 | 2 | 2008 | 2012 |