| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 7 | 17331739 | intron variant | A/G | snv | 0.76 |
|
0.020 | 1.000 | 2 | 2009 | 2018 | ||||||||
|
0.882 | 0.080 | 12 | 120222977 | missense variant | C/G;T | snv | 5.4E-03 | 5.4E-03 |
|
0.020 | 1.000 | 2 | 2008 | 2011 | |||||||
|
0.851 | 0.080 | 1 | 40757742 | intron variant | G/A;T | snv | 0.50 |
|
0.020 | 0.500 | 2 | 2016 | 2018 | ||||||||
|
0.851 | 0.080 | 6 | 117465017 | intron variant | C/A;T | snv |
|
0.710 | 1.000 | 2 | 2012 | 2016 | |||||||||
|
0.882 | 0.080 | 6 | 111390819 | intron variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.080 | 5 | 83177826 | intron variant | A/G | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.080 | 5 | 35878038 | 3 prime UTR variant | G/A | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 5 | 1279849 | intron variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.080 | 19 | 3577038 | missense variant | G/A;C | snv | 6.8E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.080 | 2 | 50420809 | intron variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.080 | 17 | 7674225 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 1993 | 1993 | |||||||||
|
0.882 | 0.080 | 7 | 124827416 | intron variant | T/C | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.080 | 7 | 6005996 | missense variant | C/A;G;T | snv | 7.2E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.080 | 8 | 127014165 | intron variant | G/A;C | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 19 | 52209575 | intron variant | G/A | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 1 | 243199378 | intron variant | A/G | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 2 | 112830483 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.851 | 0.080 | 10 | 133391446 | stop gained | C/A;G;T | snv | 1.2E-05; 0.88 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 7 | 117560845 | intron variant | C/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.080 | 7 | 55200333 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.882 | 0.080 | 7 | 116560533 | 3 prime UTR variant | C/T | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 10 | 3797822 | intergenic variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.882 | 0.080 | 5 | 8233238 | intron variant | T/C | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.080 | 15 | 78521704 | intron variant | G/A | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.080 | 4 | 144559188 | intron variant | T/C | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |