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 | 1 | 65941669 | intron variant | G/A | snv | 0.42 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.100 | 1.000 | 34 | 2005 | 2019 | |||||||
|
0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 |
|
0.100 | 1.000 | 30 | 2005 | 2019 | ||||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.100 | 0.931 | 29 | 2004 | 2019 | |||||||
|
0.724 | 0.320 | 7 | 34778501 | missense variant | A/T | snv | 0.44 | 0.47 |
|
0.070 | 1.000 | 7 | 2011 | 2017 | |||||||
|
0.742 | 0.320 | 22 | 24441333 | synonymous variant | T/C | snv | 0.54 | 0.52 |
|
0.050 | 1.000 | 5 | 2008 | 2016 | |||||||
|
0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv |
|
0.030 | 1.000 | 3 | 2013 | 2020 | |||||||||
|
0.790 | 0.120 | 17 | 45802681 | intron variant | G/A;C | snv |
|
0.030 | 1.000 | 3 | 2013 | 2019 | |||||||||
|
0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 |
|
0.030 | 0.667 | 3 | 2002 | 2018 | |||||||
|
0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 |
|
0.030 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 |
|
0.030 | 1.000 | 3 | 2015 | 2016 | |||||||
|
0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 |
|
0.030 | 1.000 | 3 | 2010 | 2018 | ||||||||
|
0.716 | 0.280 | 11 | 27658285 | missense variant | C/A;T | snv | 4.0E-06 | 1.4E-05 |
|
0.030 | 1.000 | 3 | 2008 | 2013 | |||||||
|
0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 |
|
0.020 | < 0.001 | 2 | 2013 | 2014 | |||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.020 | 1.000 | 2 | 2008 | 2012 | |||||||
|
1.000 | 0.040 | 6 | 88168233 | upstream gene variant | G/A | snv | 0.53 |
|
0.020 | 1.000 | 2 | 2009 | 2014 | ||||||||
|
0.701 | 0.200 | 3 | 8760542 | intron variant | G/A | snv | 0.16 |
|
0.020 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.827 | 0.200 | 22 | 24429543 | non coding transcript exon variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2008 | 2019 | |||||||||
|
0.752 | 0.160 | 5 | 161701908 | 3 prime UTR variant | C/T | snv | 0.51 |
|
0.020 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
0.724 | 0.200 | 12 | 71938143 | upstream gene variant | G/T | snv | 0.27 |
|
0.020 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv |
|
0.020 | 1.000 | 2 | 2016 | 2017 | |||||||||
|
0.763 | 0.240 | 1 | 115286692 | missense variant | G/A | snv | 0.37 | 0.36 |
|
0.020 | 0.500 | 2 | 2008 | 2012 | |||||||
|
0.827 | 0.080 | 6 | 35678658 | intron variant | T/A;C | snv |
|
0.020 | 1.000 | 2 | 2012 | 2016 | |||||||||
|
0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 8 | 11722293 | intron variant | A/G | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |