| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 13 | 90145067 | intergenic variant | C/G | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.701 | 0.280 | 8 | 89978293 | missense variant | T/C;G | snv | 1.2E-03 |
|
0.020 | 1.000 | 2 | 2008 | 2008 | ||||||||
|
0.701 | 0.280 | 8 | 89971232 | missense variant | G/A;C | snv | 2.5E-03 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.708 | 0.360 | 8 | 89935041 | 3 prime UTR variant | C/G | snv | 0.31 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.882 | 0.120 | 3 | 8913705 | missense variant | C/T | snv | 0.68 | 0.70 |
|
0.020 | 1.000 | 2 | 2007 | 2012 | |||||||
|
0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.649 | 0.280 | 10 | 88989499 | intron variant | G/A;T | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.752 | 0.400 | 4 | 88139962 | missense variant | C/T | snv | 0.11 | 7.4E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.200 | 4 | 88117930 | intron variant | A/G | snv | 8.9E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.240 | 4 | 88109768 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.776 | 0.360 | 4 | 87983190 | 3 prime UTR variant | A/C;T | snv |
|
0.020 | 1.000 | 2 | 2013 | 2017 | |||||||||
|
0.827 | 0.280 | 4 | 87982701 | synonymous variant | C/G;T | snv | 0.32 | 0.26 |
|
0.020 | 1.000 | 2 | 2013 | 2017 | |||||||
|
1.000 | 0.080 | 10 | 87967657 | 3 prime UTR variant | C/T | snv | 6.7E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.280 | 10 | 87966988 | 3 prime UTR variant | T/C | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.742 | 0.360 | 10 | 87960957 | stop gained | A/G;T | snv | 1.2E-05 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 10 | 87925886 | intron variant | T/C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.120 | 9 | 87640345 | missense variant | T/C | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.776 | 0.120 | 7 | 87591570 | intron variant | A/G | snv | 0.50 |
|
0.030 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
1.000 | 0.080 | 7 | 87566646 | intron variant | G/A | snv | 0.39 |
|
0.020 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
1.000 | 0.080 | 7 | 87560614 | intron variant | T/G | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.200 | 7 | 87553822 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 |
|
0.040 | 1.000 | 4 | 2008 | 2013 | |||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.070 | 1.000 | 7 | 2008 | 2013 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.100 | 0.929 | 14 | 2003 | 2019 | ||||||||
|
0.925 | 0.160 | 5 | 87268486 | missense variant | G/A | snv |
|
0.020 | 0.500 | 2 | 1999 | 2019 |