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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 |
|
0.090 | 1.000 | 9 | 2005 | 2017 | ||||||||
|
0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 |
|
0.080 | 1.000 | 8 | 2010 | 2019 | |||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.060 | 1.000 | 6 | 2004 | 2019 | ||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.040 | 0.750 | 4 | 2009 | 2017 | |||||||
|
0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 |
|
0.040 | 0.750 | 4 | 2013 | 2019 | |||||||
|
0.677 | 0.360 | 4 | 38797027 | missense variant | C/A | snv | 0.53 | 0.51 |
|
0.040 | 1.000 | 4 | 2010 | 2016 | |||||||
|
0.662 | 0.640 | 10 | 52771475 | missense variant | C/T | snv | 0.14 | 0.11 |
|
0.030 | 0.667 | 3 | 2014 | 2019 | |||||||
|
0.776 | 0.240 | 10 | 52771466 | missense variant | C/T | snv | 3.2E-02 | 7.9E-02 |
|
0.030 | 1.000 | 3 | 2011 | 2019 | |||||||
|
0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 |
|
0.030 | 0.667 | 3 | 2011 | 2017 | |||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.030 | 1.000 | 3 | 2011 | 2018 | ||||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.030 | 1.000 | 3 | 2014 | 2018 | ||||||||
|
0.752 | 0.320 | X | 12906707 | start lost | A/G | snv | 0.31 | 0.30 |
|
0.030 | 1.000 | 3 | 2011 | 2019 | |||||||
|
0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 |
|
0.030 | 1.000 | 3 | 2010 | 2015 | |||||||
|
0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 |
|
0.030 | 1.000 | 3 | 2010 | 2014 | |||||||
|
0.790 | 0.480 | 10 | 52772254 | upstream gene variant | G/C | snv | 0.31 |
|
0.020 | 0.500 | 2 | 2017 | 2019 | ||||||||
|
0.645 | 0.520 | 4 | 153704936 | missense variant | C/T | snv | 8.8E-05 | 9.8E-05 |
|
0.020 | 1.000 | 2 | 2014 | 2017 | |||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2017 | 2019 | |||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2011 | 2018 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 |
|
0.020 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
0.590 | 0.760 | 12 | 68158742 | intron variant | T/A | snv | 0.36 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.732 | 0.400 | 1 | 113852067 | missense variant | C/T | snv | 1.7E-02 | 1.6E-02 |
|
0.020 | 1.000 | 2 | 2009 | 2017 | |||||||
|
0.732 | 0.320 | 3 | 52224356 | intron variant | T/C | snv | 0.51 | 0.54 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | |||||||
|
0.752 | 0.360 | 10 | 52771482 | missense variant | G/A | snv | 5.6E-02 | 5.0E-02 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 10 | 17849701 | missense variant | G/A | snv | 0.32 |
|
0.020 | 1.000 | 2 | 2012 | 2013 |