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 | 7 | 124306349 | intron variant | T/A | snv | 2.6E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 20 | 63660246 | intron variant | C/G | snv | 1.2E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 4 | 1804450 | missense variant | G/A | snv | 2.4E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 17 | 7669655 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 13 | 48453041 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 1 | 113839403 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 22 | 26254399 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 1 | 113644533 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.080 | 18 | 50273809 | missense variant | G/A;C | snv | 3.6E-05; 0.19 |
|
0.020 | 1.000 | 2 | 2005 | 2008 | ||||||||
|
0.882 | 0.080 | 2 | 174396420 | intron variant | T/C | snv | 0.26 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.882 | 0.080 | 19 | 48128151 | intron variant | C/T | snv | 0.29 |
|
0.020 | 0.500 | 2 | 2008 | 2015 | ||||||||
|
0.882 | 0.080 | 19 | 48165573 | 5 prime UTR variant | G/A;C | snv | 0.13 |
|
0.020 | 0.500 | 2 | 2008 | 2015 | ||||||||
|
0.882 | 0.080 | 19 | 48143984 | intron variant | T/C | snv | 0.12 | 0.15 |
|
0.020 | 0.500 | 2 | 2008 | 2015 | |||||||
|
0.882 | 0.080 | 19 | 48165657 | intron variant | T/C | snv | 5.6E-02 | 9.6E-02 |
|
0.020 | 0.500 | 2 | 2008 | 2015 | |||||||
|
0.882 | 0.080 | 17 | 3872554 | missense variant | T/C | snv | 0.45 | 0.36 |
|
0.020 | 1.000 | 2 | 2013 | 2017 | |||||||
|
0.882 | 0.080 | 7 | 55027504 | intron variant | A/G | snv | 0.59 |
|
0.020 | 1.000 | 2 | 2009 | 2015 | ||||||||
|
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 | |||||||
|
0.882 | 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 |