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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.360 | 7 | 101126425 | upstream gene variant | -/A;C | ins |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.090 | 0.889 | 9 | 2002 | 2016 | ||||||||
|
0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 |
|
0.070 | 0.857 | 7 | 2002 | 2016 | |||||||
|
0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 |
|
0.050 | 1.000 | 5 | 2008 | 2017 | |||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.030 | 0.667 | 3 | 2009 | 2014 | ||||||||
|
0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 |
|
0.030 | 1.000 | 3 | 2012 | 2017 | ||||||||
|
0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 |
|
0.030 | 1.000 | 3 | 2008 | 2015 | |||||||
|
0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 |
|
0.020 | 1.000 | 2 | 2010 | 2020 | |||||||
|
0.724 | 0.400 | 3 | 122119472 | missense variant | G/A | snv | 0.30 | 0.25 |
|
0.020 | 0.500 | 2 | 2018 | 2019 | |||||||
|
0.658 | 0.560 | 9 | 117715853 | 3 prime UTR variant | G/C | snv | 0.11 |
|
0.020 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.020 | 0.500 | 2 | 2014 | 2016 | ||||||||
|
0.662 | 0.640 | 10 | 52771475 | missense variant | C/T | snv | 0.14 | 0.11 |
|
0.020 | 1.000 | 2 | 2014 | 2015 | |||||||
|
0.724 | 0.280 | 16 | 56983407 | missense variant | G/A | snv | 3.7E-02 | 2.8E-02 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | |||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.020 | 1.000 | 2 | 2010 | 2016 | ||||||||
|
0.925 | 0.080 | 3 | 122119944 | 3 prime UTR variant | T/C | snv |
|
0.020 | 1.000 | 2 | 2015 | 2018 | |||||||||
|
0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 |
|
0.020 | 1.000 | 2 | 2012 | 2014 | |||||||
|
0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 |
|
0.020 | 1.000 | 2 | 2007 | 2012 | ||||||||
|
0.851 | 0.160 | 20 | 38373117 | missense variant | T/C | snv | 9.2E-02 | 0.12 |
|
0.020 | 1.000 | 2 | 2012 | 2018 | |||||||
|
0.763 | 0.280 | 6 | 41282728 | missense variant | T/A | snv | 0.13 | 0.12 |
|
0.020 | 0.500 | 2 | 2012 | 2019 | |||||||
|
0.695 | 0.440 | 13 | 30463766 | 5 prime UTR variant | G/A;C;T | snv |
|
0.020 | 1.000 | 2 | 2012 | 2019 | |||||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 |
|
0.020 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 |
|
0.020 | 1.000 | 2 | 2010 | 2011 | |||||||
|
0.827 | 0.160 | 20 | 38318446 | missense variant | G/A;C | snv | 0.46 |
|
0.020 | 1.000 | 2 | 2001 | 2014 | ||||||||
|
0.742 | 0.240 | 4 | 38806033 | intron variant | T/A;C | snv |
|
0.020 | 1.000 | 2 | 2014 | 2016 |