| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.724 | 0.440 | 10 | 99844450 | missense variant | C/G;T | snv | 2.4E-05; 0.34 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.807 | 0.360 | 7 | 99784473 | upstream gene variant | C/T | snv | 0.78 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 7 | 99772615 | missense variant | C/T | snv | 8.0E-06 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
7 | 99768470 | missense variant | G/C | snv | 7.6E-05 | 5.6E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
7 | 99766440 | stop gained | G/A;T | snv | 6.4E-05 | 7.7E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.724 | 0.400 | 7 | 99672916 | splice acceptor variant | T/C | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
4 | 99613118 | missense variant | T/C;G | snv | 1.2E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
0.827 | 0.160 | 4 | 99428512 | missense variant | C/G | snv | 8.5E-02; 4.9E-04 | 7.8E-02 |
|
0.020 | 1.000 | 2 | 2008 | 2009 | |||||||
|
4 | 99428309 | intron variant | T/C | snv | 1.0E-02 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.807 | 0.240 | 4 | 99342808 | missense variant | C/T | snv | 0.34 | 0.31 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.724 | 0.240 | 4 | 99339632 | missense variant | T/A;C | snv | 0.35 |
|
0.020 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.050 | 1.000 | 5 | 2008 | 2015 | ||||||||
|
0.882 | 0.120 | 9 | 99153883 | 3 prime UTR variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
9 | 99146633 | intron variant | G/A | snv | 0.22 | 0.22 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.080 | 9 | 99143552 | intron variant | A/G;T | snv | 7.2E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
4 | 99134711 | intron variant | A/G | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.672 | 0.480 | 8 | 9903189 | non coding transcript exon variant | G/C | snv | 0.14 |
|
0.040 | 1.000 | 4 | 2015 | 2018 | ||||||||
|
15 | 98958173 | 3 prime UTR variant | C/G | snv | 2.3E-03 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
0.763 | 0.360 | 19 | 9834678 | splice region variant | C/T | snv | 0.59 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.732 | 0.360 | 19 | 9834503 | non coding transcript exon variant | G/A;C | snv |
|
0.040 | 1.000 | 4 | 2013 | 2014 | |||||||||
|
0.763 | 0.280 | 1 | 97883329 | missense variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
4 | 9783126 | missense variant | A/G | snv | 8.0E-05 | 3.1E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
4 | 9783122 | frameshift variant | T/- | delins | 4.4E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.776 | 0.320 | 1 | 97699535 | missense variant | T/C | snv | 8.5E-02 | 8.1E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 1 | 97699474 | missense variant | T/C | snv | 1.7E-03 | 6.1E-03 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |