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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.480 | 1 | 159715306 | upstream gene variant | C/T | snv | 0.78 |
|
0.020 | < 0.001 | 2 | 2014 | 2015 | ||||||||
|
0.851 | 0.160 | 12 | 4273870 | 5 prime UTR variant | C/T | snv | 0.58 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.763 | 0.320 | 7 | 75985688 | missense variant | C/T | snv | 0.31 | 0.27 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 2 | 6708412 | intergenic variant | T/C | snv |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.200 | 10 | 125773956 | missense variant | A/G | snv | 0.76 | 0.78 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 17 | 7673255 | synonymous variant | G/A | snv | 5.3E-06 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.776 | 0.120 | 11 | 125637491 | missense variant | T/C | snv | 8.1E-06 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.280 | 14 | 95090410 | 3 prime UTR variant | A/T | snv | 0.85 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.742 | 0.320 | 12 | 130876696 | 3 prime UTR variant | C/T | snv | 0.33 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 4 | 54738774 | 3 prime UTR variant | G/A | snv | 0.10 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.320 | 4 | 122619586 | intron variant | C/A | snv | 0.23 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 5 | 135576874 | intron variant | G/C | snv | 0.26 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.763 | 0.360 | 2 | 88124547 | missense variant | T/C | snv | 0.30 | 0.29 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.710 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.160 | 2 | 203729789 | intron variant | T/C | snv | 0.15 | 0.14 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.742 | 0.320 | 11 | 65504361 | splice region variant | C/T | snv | 0.17 | 0.17 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||
|
0.662 | 0.640 | 14 | 95087025 | 3 prime UTR variant | A/G | snv | 8.7E-02 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 |