| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | X | 101356176 | missense variant | C/G | snv |
|
0.050 | 1.000 | 5 | 2015 | 2018 | |||||||||
|
0.882 | 0.120 | X | 101356177 | missense variant | A/T | snv |
|
0.050 | 1.000 | 5 | 2015 | 2018 | |||||||||
|
0.925 | 0.120 | 6 | 33579060 | intron variant | T/C | snv | 0.74 |
|
0.820 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
0.925 | 0.120 | 18 | 50317164 | upstream gene variant | A/G;T | snv |
|
0.710 | 1.000 | 1 | 2011 | 2017 | |||||||||
|
1.000 | 0.120 | 13 | 108267195 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 16 | 85922065 | 3 prime UTR variant | C/T | snv | 0.40 |
|
0.810 | 1.000 | 1 | 2013 | 2014 | ||||||||
|
1.000 | 0.120 | 16 | 81912655 | missense variant | C/T | snv |
|
0.710 | 1.000 | 1 | 2014 | 2015 | |||||||||
|
1.000 | 0.120 | 16 | 81928578 | missense variant | A/C;G;T | snv |
|
0.710 | 1.000 | 1 | 2014 | 2016 | |||||||||
|
1.000 | 0.120 | 17 | 7675091 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||||
|
0.851 | 0.120 | 16 | 58553833 | synonymous variant | C/T | snv | 0.35 | 0.39 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.120 | 12 | 43777710 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.120 | 16 | 75648280 | missense variant | G/A | snv | 7.9E-05 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.120 | 9 | 4719290 | missense variant | G/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.120 | 7 | 124842843 | missense variant | T/C | snv | 4.5E-04 | 4.1E-04 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.120 | 13 | 49630937 | missense variant | G/A;C | snv | 3.7E-04; 4.1E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.790 | 0.120 | 5 | 35871088 | missense variant | G/A | snv | 0.64 | 0.72 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 7 | 127996905 | intron variant | C/T | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 20 | 4950467 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.120 | 12 | 112961374 | intron variant | C/T | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 6 | 33572432 | intron variant | A/G | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 5 | 87399457 | missense variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.120 | 1 | 177002472 | intron variant | T/C | snv | 0.58 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.763 | 0.120 | 17 | 42300657 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.120 | 12 | 103947867 | 3 prime UTR variant | GACT/-;GACTGACT | delins | 0.15 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 3 | 112460632 | downstream gene variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 |