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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.320 | 14 | 103707786 | 3 prime UTR variant | T/C | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.020 | 1.000 | 2 | 2005 | 2006 | |||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.030 | 1.000 | 3 | 2012 | 2016 | |||||||
|
0.752 | 0.280 | 14 | 103699003 | missense variant | C/G;T | snv | 4.3E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 14 | 103704128 | 3 prime UTR variant | G/A | snv | 5.2E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.200 | 14 | 103698934 | missense variant | C/A;T | snv | 4.5E-06; 4.3E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.070 | 1.000 | 7 | 2009 | 2014 | |||||||
|
0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.732 | 0.320 | 14 | 103707786 | 3 prime UTR variant | T/C | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 14 | 103706470 | 3 prime UTR variant | C/A | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.020 | 1.000 | 2 | 2008 | 2014 | |||||||
|
0.752 | 0.280 | 14 | 103699003 | missense variant | C/G;T | snv | 4.3E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.100 | 0.889 | 27 | 2003 | 2019 | |||||||
|
0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 |
|
0.060 | 0.667 | 6 | 2011 | 2017 | ||||||||
|
0.790 | 0.240 | 14 | 103699590 | intron variant | T/A;C | snv | 0.31 |
|
0.030 | 0.667 | 3 | 2011 | 2016 | ||||||||
|
0.851 | 0.200 | 14 | 103698934 | missense variant | C/A;T | snv | 4.5E-06; 4.3E-04 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 14 | 103707128 | missense variant | C/T | snv | 1.4E-03 | 6.3E-03 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 14 | 103712895 | 5 prime UTR variant | G/A | snv | 1.2E-04 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 14 | 103712977 | 3 prime UTR variant | T/C | snv | 0.91 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.732 | 0.320 | 14 | 103707786 | 3 prime UTR variant | T/C | snv | 0.65 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |