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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.040 | 1.000 | 4 | 2012 | 2019 | ||||||||
|
0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 |
|
0.040 | 1.000 | 4 | 2012 | 2019 | |||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.020 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.020 | 1.000 | 2 | 2008 | 2010 | |||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.020 | 1.000 | 2 | 2008 | 2010 | |||||||||
|
0.790 | 0.200 | 7 | 30452621 | missense variant | C/T | snv | 0.27 | 0.28 |
|
0.020 | 0.500 | 2 | 2010 | 2011 | |||||||
|
0.925 | 0.080 | 19 | 10189741 | intron variant | A/G | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.807 | 0.120 | 7 | 22720869 | intron variant | T/C | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.320 | 9 | 117702392 | upstream gene variant | G/A | snv | 3.2E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.742 | 0.480 | 14 | 104773557 | synonymous variant | C/T | snv | 0.30 | 0.23 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.240 | 9 | 117709275 | intron variant | C/A | snv | 9.5E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.763 | 0.320 | 12 | 68251271 | intron variant | C/G | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.645 | 0.520 | 4 | 153704936 | missense variant | C/T | snv | 8.8E-05 | 9.8E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.807 | 0.240 | 12 | 112485589 | intron variant | G/A | snv | 1.4E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 9 | 122369409 | upstream gene variant | C/T | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 7 | 101133793 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.790 | 0.320 | 2 | 25343038 | upstream gene variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.120 | 5 | 60943616 | intron variant | G/A | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 1 | 223138265 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.120 | 1 | 223129809 | intron variant | G/T | snv | 7.2E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.080 | 1 | 206770368 | intron variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 |