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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 14 | 100159565 | missense variant | C/T | snv | 0.73 | 0.76 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 7 | 100717894 | upstream gene variant | A/G | snv | 0.84 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 13 | 101167478 | intron variant | A/G | snv | 0.24 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 13 | 101173903 | intron variant | G/T | snv | 0.25 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 19 | 10154572 | intron variant | T/C | snv | 0.52 | 0.51 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.708 | 0.520 | 19 | 10156401 | synonymous variant | T/A;C | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 7 | 102178612 | synonymous variant | C/T | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 20 | 10218306 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
1.000 | 0.040 | 7 | 102189836 | synonymous variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.080 | 10 | 102238914 | intron variant | A/T | snv | 0.66 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 4 | 102263495 | intron variant | G/C | snv | 0.82 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 |
|
0.750 | 1.000 | 5 | 2015 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 102268259 | intron variant | G/A | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 102279420 | intron variant | A/G | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 102287546 | intron variant | T/C | snv | 0.79 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 102296823 | intron variant | C/T | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 102384942 | synonymous variant | C/T | snv | 0.26 | 0.24 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.040 | 5 | 102434022 | intron variant | C/T | snv | 0.64 |
|
0.810 | 0.667 | 1 | 2013 | 2016 | ||||||||
|
1.000 | 0.040 | 2 | 102441432 | intron variant | A/G | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.040 | 5 | 102444775 | intron variant | T/G | snv | 0.19 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 10 | 102776603 | intron variant | G/A | snv | 8.9E-02 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.040 | 10 | 102814805 | 3 prime UTR variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
1.000 | 0.040 | 12 | 102846289 | intron variant | C/T | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 10 | 102852578 | intron variant | T/A | snv | 0.36 |
|
0.710 | 1.000 | 1 | 2014 | 2017 |