| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 3 | 9765892 | splice acceptor variant | T/C | snv | 4.0E-06 |
|
0.020 | 0.500 | 2 | 2005 | 2009 | ||||||||
|
0.851 | 0.120 | 3 | 9765885 | splice acceptor variant | -/C | delins |
|
0.020 | 0.500 | 2 | 2005 | 2009 | |||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.100 | 0.500 | 18 | 2005 | 2019 | |||||||
|
0.882 | 0.080 | 3 | 9756823 | missense variant | G/A | snv | 2.0E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 3 | 9756791 | missense variant | G/A;T | snv | 3.9E-03; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.627 | 0.480 | 3 | 9756778 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 |
|
0.020 | 1.000 | 2 | 2010 | 2013 | |||||||
|
1.000 | 0.080 | 3 | 9756770 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 3 | 9754859 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.851 | 0.120 | 3 | 9751845 | missense variant | G/A;T | snv | 3.4E-04; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2004 | 2016 | ||||||||
|
0.925 | 0.160 | 1 | 97515865 | missense variant | C/T | snv | 1.5E-02 | 1.4E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.240 | 3 | 9750423 | missense variant | G/A;C | snv | 2.2E-03; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.240 | 1 | 97305364 | missense variant | C/T | snv | 4.7E-02 | 3.9E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.120 | 15 | 97027933 | intergenic variant | T/C | snv | 0.85 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.120 | 12 | 963799 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 8 | 96230621 | 3 prime UTR variant | C/T | snv | 0.32 | 0.31 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 8 | 96227901 | 3 prime UTR variant | C/T | snv | 0.41 | 0.46 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.763 | 0.440 | 14 | 95087805 | 3 prime UTR variant | T/C | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.662 | 0.640 | 14 | 95087025 | 3 prime UTR variant | A/G | snv | 8.7E-02 |
|
0.020 | 0.500 | 2 | 2015 | 2019 | ||||||||
|
1.000 | 0.080 | 13 | 95021537 | 3 prime UTR variant | A/C | snv | 0.41 | 0.37 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 12 | 950115 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 10 | 94988980 | synonymous variant | A/T | snv | 6.3E-02 | 4.9E-02 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.776 | 0.280 | 10 | 94981296 | missense variant | A/C;G | snv | 6.3E-02; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2007 | 2014 | ||||||||
|
0.763 | 0.320 | 10 | 94942290 | missense variant | C/T | snv | 9.2E-02 | 8.9E-02 |
|
0.030 | 1.000 | 3 | 2007 | 2014 |