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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 19 | 45406676 | 5 prime UTR variant | G/A;C;T | snv | 0.22; 6.7E-06 |
|
0.060 | 1.000 | 6 | 2012 | 2018 | ||||||||
|
0.827 | 0.080 | 3 | 189638472 | intron variant | T/C | snv | 0.45 |
|
0.750 | 1.000 | 5 | 2011 | 2019 | ||||||||
|
0.807 | 0.080 | 3 | 189665394 | intron variant | C/T | snv | 0.38 |
|
0.040 | 1.000 | 4 | 2012 | 2015 | ||||||||
|
0.807 | 0.080 | 15 | 78622903 | upstream gene variant | C/A;T | snv |
|
0.040 | 1.000 | 4 | 2009 | 2014 | |||||||||
|
0.827 | 0.080 | 7 | 55191776 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
0.030 | 1.000 | 3 | 2008 | 2014 | |||||||
|
0.851 | 0.080 | 13 | 91792975 | intron variant | C/G;T | snv |
|
0.030 | 1.000 | 3 | 2010 | 2015 | |||||||||
|
0.851 | 0.080 | 15 | 78533838 | 3 prime UTR variant | G/A;C | snv |
|
0.030 | 1.000 | 3 | 2009 | 2015 | |||||||||
|
0.851 | 0.080 | 15 | 90085305 | synonymous variant | G/A;C | snv | 3.5E-02; 6.4E-06 |
|
0.020 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
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 | ||||||||
|
0.851 | 0.080 | 15 | 78559273 | regulatory region variant | G/A | snv | 0.29 |
|
0.020 | 1.000 | 2 | 2010 | 2016 | ||||||||
|
0.882 | 0.080 | 19 | 48165573 | 5 prime UTR variant | G/A;C | snv | 0.13 |
|
0.020 | 0.500 | 2 | 2008 | 2015 | ||||||||
|
0.851 | 0.080 | 8 | 133207034 | intron variant | G/C | snv | 0.36 |
|
0.020 | 1.000 | 2 | 2014 | 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 | |||||||
|
0.851 | 0.080 | 3 | 189630622 | upstream gene variant | G/A | snv | 0.13 |
|
0.020 | 1.000 | 2 | 2014 | 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 | |||||||
|
0.851 | 0.080 | 1 | 40757742 | intron variant | G/A;T | snv | 0.50 |
|
0.020 | 0.500 | 2 | 2016 | 2018 | ||||||||
|
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 |