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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
0.020 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
0.716 | 0.280 | 2 | 38075247 | missense variant | G/C | snv | 0.31 | 0.36 |
|
0.030 | 0.667 | 3 | 2009 | 2015 | |||||||
|
1.000 | 0.080 | 4 | 88322666 | intron variant | C/T | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 11 | 108281855 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.080 | 5 | 111065770 | upstream gene variant | A/C | snv | 5.2E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.708 | 0.400 | 15 | 51210789 | 3 prime UTR variant | G/A | snv | 0.45 | 0.43 |
|
0.100 | 0.818 | 11 | 2008 | 2018 | |||||||
|
0.925 | 0.080 | 15 | 51321614 | non coding transcript exon variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.807 | 0.160 | 5 | 157110499 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 5 | 83362752 | intergenic variant | A/G | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.750 | 1.000 | 11 | 2011 | 2019 | ||||||||
|
0.925 | 0.080 | 5 | 75542076 | intron variant | A/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.160 | 15 | 51257402 | intron variant | G/A | snv | 0.64 |
|
0.020 | 1.000 | 2 | 2008 | 2017 | ||||||||
|
0.807 | 0.160 | 8 | 127519892 | intergenic variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.080 | 8 | 127359926 | intron variant | A/G | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 8 | 47891114 | intron variant | T/C | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 7 | 30504681 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.677 | 0.320 | 9 | 22062135 | intron variant | G/T | snv | 0.23 |
|
0.730 | 1.000 | 8 | 2010 | 2017 | ||||||||
|
0.827 | 0.160 | 1 | 7798075 | intron variant | G/C | snv | 0.16 |
|
0.020 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.925 | 0.080 | 14 | 50809291 | intron variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.827 | 0.240 | 14 | 79478819 | intron variant | A/G | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 19212878 | intron variant | G/C;T | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 2 | 217006626 | intergenic variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.080 | 7 | 90413990 | 3 prime UTR variant | C/T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 5 | 56857565 | intron variant | T/C | snv | 5.8E-02 |
|
0.710 | 1.000 | 2 | 2014 | 2016 |