| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.120 | 20 | 35176751 | missense variant | A/G | snv | 0.10 | 9.7E-02 |
|
0.720 | 0.667 | 1 | 2005 | 2011 | |||||||
|
0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 |
|
0.900 | 1.000 | 9 | 2007 | 2020 | ||||||||
|
0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 |
|
0.840 | 1.000 | 3 | 2007 | 2013 | ||||||||
|
0.763 | 0.240 | 10 | 44258419 | downstream gene variant | T/C | snv | 0.24 |
|
0.840 | 1.000 | 3 | 2007 | 2012 | ||||||||
|
0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv |
|
0.850 | 1.000 | 3 | 2007 | 2018 | |||||||||
|
0.807 | 0.160 | 15 | 67166301 | intron variant | T/C | snv | 0.21 |
|
0.810 | 1.000 | 2 | 2007 | 2012 | ||||||||
|
0.763 | 0.200 | 2 | 226203364 | intergenic variant | A/C;G | snv |
|
0.830 | 1.000 | 2 | 2007 | 2012 | |||||||||
|
0.807 | 0.200 | 6 | 150931849 | intron variant | G/A | snv | 0.35 |
|
0.830 | 1.000 | 2 | 2007 | 2014 | ||||||||
|
0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 |
|
0.750 | 1.000 | 1 | 2007 | 2018 | ||||||||
|
0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 |
|
0.800 | 1.000 | 3 | 2008 | 2016 | ||||||||
|
0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 |
|
0.900 | 1.000 | 1 | 2008 | 2016 | ||||||||
|
0.742 | 0.320 | 9 | 22115027 | intron variant | A/G | snv | 0.49 |
|
0.720 | 1.000 | 1 | 2008 | 2013 | ||||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.720 | 1.000 | 1 | 2008 | 2011 | |||||||||
|
0.827 | 0.280 | 12 | 120997784 | synonymous variant | G/A;T | snv | 6.7E-06; 0.40 |
|
0.820 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
0.807 | 0.200 | 3 | 138403280 | 3 prime UTR variant | C/A;T | snv |
|
0.800 | 1.000 | 2 | 2009 | 2014 | |||||||||
|
0.776 | 0.200 | 8 | 125474167 | intron variant | A/G | snv | 0.49 |
|
0.730 | 0.750 | 1 | 2009 | 2019 | ||||||||
|
0.790 | 0.200 | 15 | 58431476 | intron variant | C/G;T | snv | 0.30 |
|
0.720 | 1.000 | 1 | 2009 | 2013 | ||||||||
|
0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 |
|
0.820 | 1.000 | 1 | 2009 | 2016 | ||||||||
|
0.882 | 0.040 | 10 | 18419869 | intron variant | A/T | snv | 0.27 |
|
0.710 | 1.000 | 1 | 2010 | 2011 | ||||||||
|
0.790 | 0.160 | 19 | 11100236 | stop gained | C/A;G;T | snv | 1.6E-05; 8.9E-02 |
|
0.730 | 1.000 | 1 | 2010 | 2020 | ||||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.900 | 1.000 | 1 | 2010 | 2020 | |||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.810 | 1.000 | 1 | 2010 | 2016 | ||||||||
|
0.695 | 0.520 | 9 | 22098575 | intron variant | A/G;T | snv |
|
0.840 | 1.000 | 5 | 2011 | 2018 | |||||||||
|
0.732 | 0.200 | 6 | 12903725 | intron variant | A/G | snv | 0.32 |
|
0.820 | 1.000 | 4 | 2011 | 2019 | ||||||||
|
0.752 | 0.240 | 7 | 130023656 | missense variant | C/A;T | snv | 4.0E-06; 0.28 |
|
0.810 | 1.000 | 3 | 2011 | 2017 |