| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.695 | 0.440 | 1 | 196740644 | missense variant | G/T | snv | 0.20 | 0.15 |
|
0.020 | 1.000 | 2 | 2013 | 2016 | |||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.020 | 1.000 | 2 | 2012 | 2013 | |||||||
|
0.701 | 0.440 | 2 | 241850169 | 3 prime UTR variant | C/T | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.320 | 6 | 31947158 | synonymous variant | A/G | snv | 0.82 | 0.85 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.280 | 1 | 211329427 | intron variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.080 | 9 | 5213687 | intergenic variant | T/C | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.240 | 10 | 6080046 | intergenic variant | T/A | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 6 | 31377139 | upstream gene variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.120 | 4 | 153700794 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.851 | 0.200 | 10 | 6055320 | intron variant | T/C | snv | 7.0E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.280 | 1 | 67287825 | intergenic variant | C/T | snv | 0.55 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.677 | 0.480 | 2 | 241851281 | missense variant | G/A | snv | 9.2E-02 | 4.3E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.360 | 9 | 120974762 | intron variant | G/C | snv | 0.20 | 0.30 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 13 | 40659865 | intron variant | T/C | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.080 | 1 | 196935541 | intergenic variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.732 | 0.360 | 5 | 96788627 | missense variant | T/A;C | snv | 0.62 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.732 | 0.400 | 1 | 113852067 | missense variant | C/T | snv | 1.7E-02 | 1.6E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.776 | 0.400 | 4 | 122211337 | intron variant | A/G | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.200 | 16 | 28528527 | downstream gene variant | C/T | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.240 | 11 | 128622844 | intron variant | T/C | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 4 | 79900765 | downstream gene variant | C/A | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |