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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 12 | 111270654 | non coding transcript exon variant | A/C | snv | 0.30 |
|
0.810 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.672 | 0.560 | 4 | 122456825 | upstream gene variant | A/C | snv | 0.24 |
|
0.710 | 1.000 | 1 | 2011 | 2013 | ||||||||
|
1.000 | 0.120 | 22 | 37191071 | intron variant | A/C | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 6 | 32700662 | TF binding site variant | A/C | snv | 0.80 |
|
0.720 | 0.500 | 1 | 2018 | 2020 | ||||||||
|
0.925 | 0.160 | 7 | 50959497 | intron variant | A/C | snv | 0.96 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 12 | 9753255 | 3 prime UTR variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 4 | 121392885 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.724 | 0.240 | 9 | 136369144 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.120 | 13 | 75752146 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 9 | 4290823 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.200 | 9 | 133263862 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
1.000 | 0.950 | 6 | 2004 | 2020 | |||||||
|
0.807 | 0.320 | 16 | 11086016 | intron variant | A/G | snv | 0.37 |
|
0.800 | 1.000 | 5 | 2007 | 2011 | ||||||||
|
0.827 | 0.240 | 12 | 112049014 | intron variant | A/G | snv | 0.30 |
|
0.810 | 1.000 | 3 | 2007 | 2010 | ||||||||
|
0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 |
|
0.830 | 0.667 | 2 | 2009 | 2019 | ||||||||
|
0.827 | 0.200 | 17 | 45996523 | synonymous variant | A/G | snv | 0.14 | 0.15 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.200 | 10 | 6066377 | upstream gene variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.240 | 16 | 28329624 | intergenic variant | A/G | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 8 | 118965098 | intergenic variant | A/G | snv | 0.36 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.742 | 0.440 | 6 | 31951083 | non coding transcript exon variant | A/G | snv | 7.5E-02 |
|
0.800 | 1.000 | 1 | 2007 | 2015 | ||||||||
|
0.724 | 0.240 | 12 | 40366829 | non coding transcript exon variant | A/G | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 6 | 32660056 | splice region variant | A/G | snv | 0.31 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 16 | 11257354 | intron variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.280 | 2 | 162254026 | regulatory region variant | A/G | snv | 0.46 |
|
0.710 | 1.000 | 1 | 2011 | 2015 |