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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.800 | 0 | ||||||||||
|
14 | 103698185 | 3 prime UTR variant | T/C | snv | 1.9E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
14 | 103698185 | 3 prime UTR variant | T/C | snv | 1.9E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
14 | 103701227 | 3 prime UTR variant | A/G | snv | 0.28 | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 14 | 103703253 | synonymous variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.763 | 0.160 | 14 | 103707168 | missense variant | G/A | snv | 1.3E-05 | 1.4E-05 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.763 | 0.160 | 14 | 103707168 | missense variant | G/A | snv | 1.3E-05 | 1.4E-05 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.763 | 0.160 | 14 | 103707168 | missense variant | G/A | snv | 1.3E-05 | 1.4E-05 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.763 | 0.160 | 14 | 103707168 | missense variant | G/A | snv | 1.3E-05 | 1.4E-05 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.763 | 0.160 | 14 | 103707168 | missense variant | G/A | snv | 1.3E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.763 | 0.160 | 14 | 103707168 | missense variant | G/A | snv | 1.3E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.763 | 0.160 | 14 | 103707168 | missense variant | G/A | snv | 1.3E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.763 | 0.160 | 14 | 103707168 | missense variant | G/A | snv | 1.3E-05 | 1.4E-05 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.763 | 0.160 | 14 | 103707168 | missense variant | G/A | snv | 1.3E-05 | 1.4E-05 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 14 | 103698904 | missense variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.080 | 14 | 103698904 | missense variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.240 | 14 | 103699590 | intron variant | T/A;C | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.790 | 0.240 | 14 | 103699590 | intron variant | T/A;C | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |