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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 126292998 | missense variant | G/A | snv | 2.3E-03 | 7.9E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
11 | 126292998 | missense variant | G/A | snv | 2.3E-03 | 7.9E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
11 | 126285829 | intron variant | C/T | snv | 4.4E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 126285829 | intron variant | C/T | snv | 4.4E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 126285829 | intron variant | C/T | snv | 4.4E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 |
|
0.050 | 1.000 | 5 | 2009 | 2017 | |||||||
|
0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 |
|
0.040 | 0.750 | 4 | 2008 | 2016 | |||||||
|
0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 |
|
0.030 | 1.000 | 3 | 2010 | 2014 | |||||||
|
0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 |
|
0.020 | 0.500 | 2 | 2008 | 2008 | |||||||
|
0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 |
|
0.020 | 1.000 | 2 | 2008 | 2015 | |||||||
|
0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 |
|
0.020 | 1.000 | 2 | 2011 | 2013 | |||||||
|
0.925 | 0.120 | 11 | 126292650 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 11 | 126292650 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 11 | 126292650 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 11 | 126290792 | intron variant | A/C;G | snv |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 11 | 126292326 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.080 | 11 | 126292326 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.080 | 11 | 126294454 | 3 prime UTR variant | T/C | snv | 0.84 | 0.84 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 11 | 126292967 | synonymous variant | C/T | snv | 0.18 | 0.19 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 11 | 126292967 | synonymous variant | C/T | snv | 0.18 | 0.19 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 |
|
0.010 | 1.000 | 1 | 2008 | 2008 |