| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 1 | 7806023 | intron variant | G/A | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 1 | 7787776 | non coding transcript exon variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.827 | 0.120 | 1 | 7785635 | intron variant | T/C | snv | 0.69 | 0.69 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.827 | 0.080 | 1 | 207321071 | upstream gene variant | T/C | snv | 0.77 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 1 | 162778600 | missense variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.827 | 0.360 | 1 | 206771607 | intron variant | T/G | snv | 8.0E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 50968015 | 5 prime UTR variant | T/A | snv | 7.7E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.672 | 0.360 | 1 | 45331833 | missense variant | C/A;G | snv | 0.29 | 0.27 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.752 | 0.280 | 1 | 45329400 | missense variant | C/T | snv | 2.0E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 1 | 155192150 | missense variant | G/C | snv | 8.0E-06 | 5.6E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 1 | 236899132 | 3 prime UTR variant | T/C | snv | 6.4E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.320 | 1 | 206771818 | intron variant | G/A | snv | 1.5E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.160 | 1 | 15524988 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.882 | 0.120 | 1 | 11783110 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.200 | 1 | 241858594 | missense variant | C/T | snv | 8.0E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 1 | 43671586 | missense variant | C/A;G;T | snv | 0.70 | 0.78 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 1 | 12165294 | upstream gene variant | T/A | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 1 | 229883301 | intron variant | G/A | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.776 | 0.160 | 1 | 67165579 | intron variant | C/T | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.080 | 1 | 12184261 | intron variant | T/C | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.200 | 1 | 186681714 | upstream gene variant | T/C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 1 | 7801624 | intron variant | A/C | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.200 | 1 | 241860647 | missense variant | T/C | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.851 | 0.080 | 1 | 23362976 | missense variant | G/A | snv | 4.0E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 |