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 |
|
0.060 | 1.000 | 6 | 2005 | 2014 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.020 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.030 | 0.667 | 3 | 1998 | 2009 | |||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.060 | 0.833 | 6 | 2006 | 2012 | |||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 |
|
0.080 | 0.875 | 8 | 2011 | 2017 | ||||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.100 | 0.944 | 89 | 2009 | 2020 | |||||||
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 |
|
0.030 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 |
|
0.100 | 1.000 | 19 | 2015 | 2020 | |||||||
|
0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.040 | 1.000 | 4 | 2012 | 2018 | |||||||
|
0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.030 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.677 | 0.520 | 11 | 71456403 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 |