| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.200 | 15 | 89318986 | missense variant | G/A | snv | 2.0E-05 |
|
0.700 | 1.000 | 2 | 2010 | 2011 | ||||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.100 | 0.958 | 24 | 2010 | 2019 | |||||||
|
0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 |
|
0.100 | 1.000 | 11 | 2010 | 2019 | ||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.100 | 1.000 | 10 | 1999 | 2015 | |||||||
|
0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 |
|
0.070 | 1.000 | 7 | 2010 | 2019 | ||||||||
|
0.776 | 0.200 | 2 | 112013193 | intron variant | A/G | snv | 0.58 |
|
0.030 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 |
|
0.030 | 1.000 | 3 | 2014 | 2016 | |||||||
|
0.683 | 0.360 | 10 | 113588287 | missense variant | G/A | snv | 2.2E-02 | 2.4E-02 |
|
0.030 | 1.000 | 3 | 2009 | 2016 | |||||||
|
0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 |
|
0.020 | 1.000 | 2 | 2011 | 2019 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2005 | 2008 | |||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.020 | 1.000 | 2 | 2003 | 2006 | |||||||
|
0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 |
|
0.020 | 1.000 | 2 | 2002 | 2013 | ||||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.020 | 1.000 | 2 | 2014 | 2014 | |||||||
|
0.776 | 0.160 | 11 | 117220893 | non coding transcript exon variant | G/A;C | snv |
|
0.020 | 1.000 | 2 | 2016 | 2017 | |||||||||
|
0.689 | 0.320 | 19 | 54173068 | missense variant | T/A;C;G | snv |
|
0.020 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.240 | 4 | 76001835 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.080 | 4 | 87308948 | intron variant | T/A;C;G | snv |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||||
|
0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 15 | 67181363 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 11 | 5698520 | missense variant | G/A;C;T | snv | 4.0E-06; 0.50; 1.6E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.776 | 0.160 | 4 | 141733394 | 3 prime UTR variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |