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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.900 | 0.960 | 274 | 2005 | 2019 | ||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.900 | 0.966 | 29 | 2005 | 2019 | ||||||||
|
0.925 | 0.080 | 9 | 5073742 | missense variant | G/C | snv |
|
0.810 | 1.000 | 4 | 2006 | 2019 | |||||||||
|
0.882 | 0.160 | 9 | 5070831 | intron variant | C/G | snv | 0.25 |
|
0.810 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.800 | 0.970 | 263 | 2005 | 2019 | ||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.800 | 0.966 | 175 | 2005 | 2020 | ||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.800 | 1.000 | 2 | 2005 | 2012 | ||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.770 | 0.900 | 10 | 2006 | 2016 | ||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.750 | 1.000 | 5 | 2006 | 2012 | ||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.710 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.120 | 9 | 5078360 | missense variant | A/G | snv |
|
0.700 | 1.000 | 4 | 2008 | 2012 | |||||||||
|
1.000 | 0.120 | 9 | 5078361 | missense variant | G/C | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 2008 | 2012 | ||||||||
|
0.925 | 0.120 | 9 | 5078362 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 4 | 2008 | 2012 | |||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
9 | 5075628 | intron variant | C/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
9 | 5075628 | intron variant | C/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.882 | 0.120 | 9 | 5078360 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.851 | 0.080 | 9 | 5089726 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.080 | 9 | 5063296 | intron variant | G/T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.080 | 9 | 5065750 | intron variant | G/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 5081828 | missense variant | G/C | snv | 4.2E-04 | 5.4E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
9 | 5064193 | intron variant | T/C | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.080 | 9 | 4984530 | 5 prime UTR variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 9 | 4984530 | 5 prime UTR variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
9 | 5089770 | missense variant | G/A | snv | 1.7E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |