| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
1.000 | 0.877 | 8 | 2005 | 2019 | |||||||
|
0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 |
|
0.850 | 0.889 | 2 | 2010 | 2019 | ||||||||
|
1.000 | 0.120 | 1 | 17348042 | synonymous variant | C/A | snv | 0.39 | 0.37 |
|
0.810 | 1.000 | 2 | 2011 | 2019 | |||||||
|
0.925 | 0.200 | 1 | 2622185 | intron variant | T/C | snv | 0.40 |
|
0.810 | 0.750 | 2 | 2008 | 2019 | ||||||||
|
0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 |
|
0.800 | 1.000 | 2 | 2007 | 2019 | ||||||||
|
1.000 | 0.120 | 1 | 38151199 | intron variant | C/A | snv | 0.21 |
|
0.800 | 1.000 | 2 | 2009 | 2015 | ||||||||
|
0.925 | 0.120 | 1 | 198731313 | intron variant | G/A | snv | 0.21 |
|
0.740 | 1.000 | 1 | 2010 | 2016 | ||||||||
|
1.000 | 0.120 | 1 | 113701277 | intron variant | C/A | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 1 | 9348900 | intron variant | A/C | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.200 | 1 | 17331039 | missense variant | G/A | snv | 0.56 | 0.55 |
|
0.720 | 1.000 | 1 | 2007 | 2017 | |||||||
|
0.925 | 0.200 | 1 | 17340013 | intron variant | C/T | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.160 | 1 | 116720516 | regulatory region variant | C/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 1 | 113553475 | intron variant | T/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 1 | 150030478 | intergenic variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 1 | 38158457 | intron variant | G/A | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.120 | 1 | 38168207 | intergenic variant | A/T | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
1.000 | 0.120 | 1 | 113851126 | intron variant | A/G | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 1 | 113815128 | intron variant | G/A | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.120 | 1 | 113858609 | intron variant | A/G | snv | 0.53 | 0.57 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.120 | 1 | 113711017 | intron variant | C/T | snv | 0.78 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 1 | 60576203 | intron variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.200 | 1 | 113877706 | 3 prime UTR variant | C/A;T | snv |
|
0.710 | 0.500 | 1 | 2009 | 2010 | |||||||||
|
1.000 | 0.120 | 1 | 173380586 | intergenic variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2014 | 2019 | |||||||||
|
1.000 | 0.120 | 1 | 17347907 | intron variant | C/T | snv | 0.43 | 0.45 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.120 | 1 | 17347613 | intron variant | C/T | snv | 0.36 |
|
0.800 | 1.000 | 1 | 2012 | 2012 |